ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.252C>T (p.Phe84=)

gnomAD frequency: 0.00001  dbSNP: rs397516757
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Total submissions: 4
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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 RCV000037456 SCV000061114 likely benign not specified 2012-05-10 criteria provided, single submitter clinical testing Phe84Phe in exon 4 of MYH6: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue and is not located within the splice consensus sequence. Phe84Phe in exon 4 of MYH6 (allele frequency = n/a)
Labcorp Genetics (formerly Invitae), Labcorp RCV002054662 SCV002430804 likely benign Hypertrophic cardiomyopathy 14 2023-04-26 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000037456 SCV001922363 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001723615 SCV001954698 likely benign not provided no assertion criteria provided clinical testing

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