ClinVar Miner

Submissions for variant NM_002470.3(MYH3):c.875C>G (p.Ser292Cys) (rs139480342)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000195045 SCV000248112 uncertain significance not specified 2015-03-05 criteria provided, single submitter clinical testing
Yale Center for Mendelian Genomics,Yale University RCV000662290 SCV000784618 likely pathogenic Rhabdomyolysis 2017-08-05 no assertion criteria provided literature only

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