ClinVar Miner

Submissions for variant NM_031229.4(RBCK1):c.1465del (p.Thr489fs)

dbSNP: rs2122348874
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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 RCV005025746 SCV005656948 likely pathogenic Polyglucosan body myopathy type 1 2024-02-07 criteria provided, single submitter clinical testing
OMIM RCV002260926 SCV002540625 pathogenic Polyglucosan body myopathy 1 without immunodeficiency 2022-06-23 no assertion criteria provided literature only

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