Collaborator: Partners HealthCare Personalized Medicine, Cambridge, MA
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Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach
Abstract ClinVar provides open access to variant classifications shared from many clinical laboratories. Although most classifications are consistent across laboratories, classification differences exist. To facilitate resolution of classification differences on a large scale, clinical laboratories were encouraged to reassess outlier classifications of variants with medically significant differences (MSDs). Outliers were identified by first comparing ClinVar…
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Resolving variant interpretation differences in ClinVar between 43 clinical laboratories.
•While the majority of variant classifications agree between laboratories, among those submitting to ClinVar, 2.5% of all shared variants have medically significant differences with potential to impact medical management •Spearheaded by Ambry Genetics and Laboratory for Molecular Medicine, we are undergoing an initiative to collaborate between laboratories in an effort to resolve these discrepancies in…
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Resolving Variant Interpretation Differences in ClinVar between 43 Clinical Laboratories.
While the majority of variant classifications agree between laboratories, among those submitting to ClinVar, 2.5% of all shared variants have medically significant differences with potential to impact medical management Spearheaded by Ambry Genetics and Laboratory for Molecular Medicine, we are undergoing an initiative to collaborate between laboratories in an effort to resolve these discrepancies in…
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Clinical Laboratories Implement the ACMG/AMP Guidelines to Resolve Differences in Variant Interpretations Submitted to ClinVar.
As part of a ClinGen initiative, four clinical laboratories, Ambry Genetics, GeneDx, Partners Laboratory for Molecular Medicine, and University of Chicago, have collaborated to resolve variant interpretation differences identified in ClinVar by reassessing variants and comparing American College of Medical Genetics and Genomics (ACMG) and Association for Molecular Pathology (AMP) variant interpretation guideline criteria. As…