ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.4978G>C (p.Ala1660Pro)

dbSNP: rs1892176969
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV003320243 SCV001429334 uncertain significance Myosin storage myopathy 2020-02-12 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed).

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