ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.3363G>C (p.Glu1121Asp)

dbSNP: rs886041113
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV000258941 SCV000328954 uncertain significance Hypertrophic cardiomyopathy 1 2016-09-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005003597 SCV005629710 uncertain significance Hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy 2024-03-12 criteria provided, single submitter clinical testing

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