ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.4906G>C (p.Ala1636Pro)

dbSNP: rs587779415
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neurogenetics Laboratory, Royal Perth Hospital RCV000132761 SCV000120167 pathogenic MYH7-related skeletal myopathy 2013-01-01 no assertion criteria provided clinical testing

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