ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.3927T>C (p.Ser1309=)

gnomAD frequency: 0.00145  dbSNP: rs115742584
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham 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).
Invitae RCV000548761 SCV000648256 benign Hypertrophic cardiomyopathy 14 2024-01-22 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769408 SCV000900801 likely benign Cardiomyopathy 2015-10-13 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000037487 SCV001432065 benign not specified 2020-08-30 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001701650 SCV001473291 benign not provided 2020-01-16 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000037487 SCV001920056 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701650 SCV001928450 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001701650 SCV001968301 likely benign not provided no assertion criteria provided clinical testing

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