ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.2071G>A (p.Val691Ile) (rs148915045)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000151220 SCV000199077 likely benign not specified 2015-03-23 criteria provided, single submitter clinical testing p.Val691Ile in exon 18 of MYH6: This variant is not expected to have clinical si gnificance because it has been identified in 0.9% (92/10402) of African chromoso mes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; d bSNP rs148915045).
GeneDx RCV000151220 SCV000515776 benign not specified 2017-01-06 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000457574 SCV000557919 benign not provided 2019-02-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619683 SCV000735996 likely benign Cardiovascular phenotype 2016-12-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Subpopulation frequency in support of benign classification
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769419 SCV000900812 uncertain significance Cardiomyopathy 2016-04-06 criteria provided, single submitter clinical testing

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