ClinVar Miner

Submissions for variant NM_031229.4(RBCK1):c.246G>A (p.Ala82=)

gnomAD frequency: 0.00036  dbSNP: rs148091459
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000652306 SCV000774174 likely benign Polyglucosan body myopathy type 1 2024-12-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004597850 SCV005093201 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing RBCK1: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003953194 SCV004775945 likely benign RBCK1-related disorder 2022-12-12 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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