ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.4899C>T (p.His1633=) (rs61742474)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000252935 SCV000318210 benign Cardiovascular phenotype 2016-07-13 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770430 SCV000901873 benign Cardiomyopathy 2016-12-01 criteria provided, single submitter clinical testing
GeneDx RCV000037519 SCV000714291 benign not specified 2017-04-14 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 RCV000230251 SCV000287432 benign Familial hypertrophic cardiomyopathy 14 2017-12-21 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037519 SCV000061177 benign not specified 2012-02-23 criteria provided, single submitter clinical testing His1633His in exon 33 of MYH6: This variant is not expected to have clinical sig nificance because it has been identified in 1.2% (44/3738) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs61742474).

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