ClinVar Miner

Submissions for variant NM_031229.4(RBCK1):c.746A>G (p.Gln249Arg)

gnomAD frequency: 0.00010  dbSNP: rs763971799
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000694783 SCV000823243 likely benign Polyglucosan body myopathy type 1 2024-01-21 criteria provided, single submitter clinical testing

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