ClinVar Miner

Submissions for variant NM_031229.4(RBCK1):c.724_727dup (p.Glu243fs)

dbSNP: rs730880329
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002477341 SCV002782041 pathogenic Polyglucosan body myopathy type 1 2022-05-24 criteria provided, single submitter clinical testing
OMIM RCV001840048 SCV000172495 pathogenic Polyglucosan body myopathy 1 without immunodeficiency 2013-12-01 no assertion criteria provided literature only

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