Collaborator: Stanford
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Gene-specific criteria for PTEN variant curation.
Ambry is part of ClinGen PTEN Expert panel which was formed to optimize the 2015 ACMG-AMP Variant Interpretation Guidelines for clinical interpretation of variants identified in PTEN Optimized guidelines will facilitate accurate and consistent classification of variants in PTEN across clinical and research laboratories and are therefore very important for patient care.
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Navigating variant interpretation differences in cardiovascular genetics: emerging data & perspectives from clinicians & laboratories
List potential sources of differing variant interpretations between laboratories. Describe laboratory efforts to resolve differences in variant interpretation. Summarize recent research findings on the role clinical genetic counselors can play in variant interpretation. Identify ways to address discrepancies between laboratory interpretations, or between laboratory and clinician interpretations, for variants in your own practice.
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Cancer risks are elevated among relatives of MRE11A, RAD50 and NBN mutation carriers but similar to mutation negative families in a laboratory based cohort
Genes for which cancer risks are not well characterized are included on clinical nextgeneration sequencingbased multigene panel tests (MGPT), including MRE11A, RAD50, and NBN (MRN).