ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.3237G>C (p.Arg1079=)

dbSNP: rs1272236852
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001411260 SCV001613319 likely benign Hypertrophic cardiomyopathy 2023-11-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002322412 SCV002610322 likely benign Cardiovascular phenotype 2022-01-24 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.
Fulgent Genetics, Fulgent Genetics RCV002488227 SCV002799262 likely benign Hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Congenital myopathy with fiber type disproportion; Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy 2021-12-03 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004006924 SCV004817255 likely benign Cardiomyopathy 2023-02-24 criteria provided, single submitter clinical testing

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