ClinVar Miner

Submissions for variant NM_031229.4(RBCK1):c.799C>T (p.Gln267Ter)

dbSNP: rs2122268166
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomics England Pilot Project, Genomics England RCV001542619 SCV001760463 likely pathogenic Polyglucosan body myopathy type 1 no assertion criteria provided clinical testing
OMIM RCV002264818 SCV002540622 pathogenic Polyglucosan body myopathy 1 without immunodeficiency 2022-06-23 no assertion criteria provided literature only

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