ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.5136C>T (p.Ser1712=)

gnomAD frequency: 0.00002  dbSNP: rs397516774
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Total submissions: 3
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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 RCV000037527 SCV000061185 likely benign not specified 2013-01-23 criteria provided, single submitter clinical testing Ser1712Ser in exon 34 of MYH6: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. Ser1712Ser in exon 34 of MYH6 (allele freque ncy = n/a)
Invitae RCV001852778 SCV002234120 likely benign Hypertrophic cardiomyopathy 14 2023-03-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002345294 SCV002646612 likely benign Cardiovascular phenotype 2018-11-02 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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