ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.4834C>G (p.Leu1612Val)

dbSNP: rs397516229
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Total submissions: 2
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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 RCV000035934 SCV000059585 uncertain significance not specified 2014-01-19 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Fulgent Genetics, Fulgent Genetics RCV002477077 SCV002797632 uncertain significance Hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Congenital myopathy with fiber type disproportion; Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy 2021-08-13 criteria provided, single submitter clinical testing

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