ClinVar Miner

Submissions for variant NM_020884.7(MYH7B):c.2629C>T (p.Arg877Cys)

gnomAD frequency: 0.00207  dbSNP: rs200371401
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520290 SCV000618982 uncertain significance not provided 2024-07-05 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Variants in candidate genes are classified as variants of uncertain significance in accordance with ACMG guidelines (PMID: 25741868); This variant is associated with the following publications: (PMID: 25741868)
Labcorp Genetics (formerly Invitae), Labcorp RCV000520290 SCV002367716 likely benign not provided 2024-11-16 criteria provided, single submitter clinical testing

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