ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.643-5C>T (rs199859986)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037538 SCV000061196 uncertain significance not specified 2013-03-06 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The 643-5C>T varian t in MYH6 has not been reported in the literature nor previously identified by o ur laboratory. This variant has been identified in 0.1% (7/8600) of European Ame rican chromosomes from a broad population by the NHLBI Exome Sequencing Project ( This variant is located in the 3' splice re gion. Computational tools do not suggest an impact to splicing. However, this in formation is not predictive enough to rule out pathogenicity. Although this data supports that the 643-5C>T variant may be benign, additional studies are needed to fully assess its clinical significance.
Invitae RCV000230504 SCV000287441 likely benign Familial hypertrophic cardiomyopathy 14 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000251059 SCV000318281 likely benign Cardiovascular phenotype 2019-03-26 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
GeneDx RCV000037538 SCV000534461 likely benign not specified 2017-11-08 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.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769432 SCV000900825 likely benign Cardiomyopathy 2018-10-29 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000157345 SCV000207082 likely benign Primary familial hypertrophic cardiomyopathy 2014-11-28 no assertion criteria provided clinical testing

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