ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.4401T>G (p.Ser1467=)

gnomAD frequency: 0.00208  dbSNP: rs150081280
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000037506 SCV000052974 benign not specified 2019-12-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000037506 SCV000061164 likely benign not specified 2015-10-30 criteria provided, single submitter clinical testing p.Ser1467Ser in exon 31 of MYH6: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified 0.8% (79/10234) of A frican chromosomes, including 1 homozygote by the Exome Aggregation Consortium ( ExAC, http://exac.broadinstitute.org; dbSNP rs150081280).
Ambry Genetics RCV000249957 SCV000319589 likely benign Cardiovascular phenotype 2023-10-13 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
GeneDx RCV001703426 SCV000531898 likely benign not provided 2021-06-21 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24503780)
Invitae RCV000475333 SCV000557890 likely benign Hypertrophic cardiomyopathy 14 2024-01-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001703426 SCV004184341 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing MYH6: BP4, BP7

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