ClinVar Miner

Submissions for variant NM_016277.5(RAB23):c.117G>A (p.Lys39=)

gnomAD frequency: 0.00001  dbSNP: rs771469793
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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 RCV001465183 SCV001669166 likely benign Carpenter syndrome 2023-09-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004743511 SCV005365005 likely benign RAB23-related disorder 2021-05-26 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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