ClinVar Miner

Submissions for variant NM_016277.5(RAB23):c.155+6dup

gnomAD frequency: 0.00001  dbSNP: rs761067059
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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 RCV002088271 SCV002377199 likely benign Carpenter syndrome 2023-07-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004744257 SCV005354663 likely benign RAB23-related disorder 2024-08-06 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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