ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.939C>T (p.Phe313=)

gnomAD frequency: 0.00007  dbSNP: rs372589578
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001510804 SCV001717936 benign Hypertrophic cardiomyopathy 14 2024-01-10 criteria provided, single submitter clinical testing
GeneDx RCV001528224 SCV001801040 likely benign not provided 2020-12-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002377887 SCV002684971 likely benign Cardiovascular phenotype 2022-06-08 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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528224 SCV001739598 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001528224 SCV001955367 likely benign not provided no assertion criteria provided clinical testing

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