ClinVar Miner

Submissions for variant NM_031229.4(RBCK1):c.513C>G (p.Gly171=)

gnomAD frequency: 0.00004  dbSNP: rs777854248
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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 RCV001491977 SCV001696582 likely benign Polyglucosan body myopathy type 1 2023-10-05 criteria provided, single submitter clinical testing

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