ClinVar Miner

Submissions for variant NM_000432.4(MYL2):c.499T>C (p.Ter167Gln)

dbSNP: rs2071647433
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pediatrics, The University of Tokyo RCV001507318 SCV001712279 likely pathogenic Congenital myopathy with fiber type disproportion 2021-05-27 criteria provided, single submitter clinical testing

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