ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.354G>A (p.Ser118=)

gnomAD frequency: 0.00002  dbSNP: rs368925624
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Total submissions: 7
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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 RCV000215172 SCV000270458 likely benign not specified 2015-09-28 criteria provided, single submitter clinical testing p.Ser118Ser in exon 05 of MYH7: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 3/16512 South Asia n chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstit ute.org; dbSNP rs368925624).
Color Diagnostics, LLC DBA Color Health RCV000771954 SCV000904908 likely benign Cardiomyopathy 2018-10-16 criteria provided, single submitter clinical testing
Invitae RCV000875733 SCV001018202 likely benign Hypertrophic cardiomyopathy 2024-02-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000215172 SCV002571796 likely benign not specified 2022-08-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002336595 SCV002618738 likely benign Cardiovascular phenotype 2018-04-25 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.
Clinical Genetics, Academic Medical Center RCV000215172 SCV001925039 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701791 SCV001929640 likely benign not provided no assertion criteria provided clinical testing

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