ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.5333A>C (p.His1778Pro)

dbSNP: rs1892139406
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198977 SCV001369972 uncertain significance Congenital myopathy with fiber type disproportion 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The following ACMG criteria were applied in classifying this variant: PM2,PP2,PP3.

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