ClinVar Miner

Submissions for variant NM_031229.4(RBCK1):c.855C>T (p.Cys285=)

gnomAD frequency: 0.00003  dbSNP: rs776856644
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000917653 SCV001062942 likely benign Polyglucosan body myopathy type 1 2024-10-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003913075 SCV004735271 likely benign RBCK1-related disorder 2020-08-01 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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