ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.3927T>C (p.Ser1309=) (rs115742584)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769408 SCV000900801 likely benign Cardiomyopathy 2015-10-13 criteria provided, single submitter clinical testing
GeneDx RCV000037487 SCV000714316 likely benign not specified 2017-06-20 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 RCV000548761 SCV000648256 benign Familial hypertrophic cardiomyopathy 14 2017-03-03 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037487 SCV000061145 benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Ser1309Ser in Exon 28 of MYH6: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence and has been identified in 0.5% (18/3738) of Af rican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs115742584).

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