ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.2766G>A (p.Lys922=)

gnomAD frequency: 0.00002  dbSNP: rs373721137
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001563055 SCV001785931 likely benign not provided 2020-06-10 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002072139 SCV002475475 likely benign Hypertrophic cardiomyopathy 14 2023-10-18 criteria provided, single submitter clinical testing

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