ACMG 2016

Tuesday

March 8

Poster Session 11:00 AM – 12:00 PM (7 Posters)
Oral Presentations 3:00 PM – 5:25 PM

Friday

March 11

Oral Presentations 2:00 PM – 3:00 PM

Tuesday, March 8

11:00 AM – 12:00 PM

7 Posters

Session

Pn/a

Performance of ACMG/AMP variant interpretation guidelines among nine laboratories in the Clinical Sequencing Exploratory Research consortium

Poster

Robert Green, Carrie Horton, Laura M. Amendola, Gail P. Jarvik, Michael C. Leo, Heather M. McLaughlin, Yassmine Akkar, Michelle D. Amaral, Jonathan S. Berg, Sawona Biswas, Kevin M. Bowling, Laura K. Conlin, Greg M. Cooper, Michael O. Dorschner, Matthew C. Dulik, Arezou A. Ghazani, Rajarshi Ghosh, Ragan Hart, Jennifer J. Johnston, Matthew S. Lebo, Aleksandar Milosavljevic, Jeffrey Ou, Christine M. Pak, Ronak Y. Patel, Sumit Punj, Carolyn Sue Richards, Joseph Salama, Natasha T. Strande, Yaping Yang, Sharon E. Plon, Leslie G. Biesecker, Heidi L. Rehm

Session

Pn/a

Low incidence of abnormal cell free fetal DNA testing in the presence of isolated sonographic soft markers for aneuploidy

Abstract

Tiffiney Carter, Shannon Mulligan, Lauren Westerfield, Ignatia Van den Veyver

Session

Pn/a

Increasing Uptake of Hereditary Cancer Multi-gene Panel Testing: Overcoming Initial Barriers

Abstract

Poster

Kelly Fulk, Emily Dalton, Amal Yussuf, Holly Laduca, Jill Dolinsky, Rachel McFarland

Session

Pn/a

Family Matters: How Segregation Studies Reclassify Variants in Thoracic Aortic Aneurysm and Dissection Multigene Panels

Poster

Abstract

Tami Johnston, Jade Tinker, Melissa Dempsey, Jill Dolinsky, Brigette Tippin Davis, Ira Lu, Linbo Yu, Sara Calicchia

Session

Pn/a

Clinical Utility of Diagnostic Exome Sequencing in Hereditary Cancer

Poster

Abstract

Holly Laduca, Tripti Paudyal, Shuwei Li, Kelly Hagman, MS, CGC, LGC, Sha Tang, Zöe Powis

Session

Pn/a

Landscape of Variants of Unknown Significance in FBN1 Identified in Patients with TAAD and Marfan Syndrome

Poster

Abstract

Tami Johnston, Jade Tinker, Tina Pesaran, MA, MS, CGC, Brigette Tippin Davis, Jill Dolinsky, Lan Qin, Robert Huether, Sara Calicchia, Arthur Dean, Hsiao-Mei Lu

Session

Pn/a

Clinical laboratories implement the ACMG/AMP guidelines to resolve differences in variant interpretations submitted to ClinVar.

Abstract

Jill Dolinsky, Tina Pesaran, MA, MS, CGC, Elizabeth Chao, Steven M. Harrison, Lisa Vincent, Amy Knight Johnson, Danielle R. Azzariti, Soma Das, Sherri Bale, Heidi L. Rehm

Tuesday, March 8

3:00 PM – 5:25 PM

2 Presentations

Rising to the Level of Clinical Importance: Challenges to adjudicating and reporting variants discovered with genomic analysis.

Abstract

Jill Dolinsky

Session

n/a

De novo Mutations of KIAA2022 in Females Cause Epileptic Encephalopathy.

Abstract

Katherine Helbig, Iris de Lange, Sarah Weckhuysen, Rikke Mu00f8ller, Milen Velinov, Laura Farach, Eric Marsh, Ingo Helbig, Sha Tang, Heather Mefford, Wim Van Paesschen, Pasquale Striano, Koen van Gassen, Marjan van Kempen, Carolien de Kovel, Juliette Piard, Berge Minassian, Marjan Nezarati, Andru00e9 Pessoa, Aurelia Jacquette, Ruben van 't Slot, Lionel Van Maldergem, Eva Brilstra, Bobby Koeleman

Friday, March 11

2:00 PM – 3:00 PM

1 Presentation

Clinical diagnostic exome sequencing identified compound heterozygous ASPM gene alterations in a fetus with marked microcephaly.

Abstract

Presentation

Christina L. Alamillo, Zu00f6e Powis, Kelly Farwell, Joyce A. Kobori, Jazmine Jung, Sha Tang, Elizabeth C. Chao