ClinVar Miner

Submissions for variant NM_016277.5(RAB23):c.184T>C (p.Leu62=)

gnomAD frequency: 0.00001  dbSNP: rs779101760
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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 RCV001465050 SCV001669033 likely benign Carpenter syndrome 2023-09-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003980385 SCV004795830 likely benign RAB23-related disorder 2021-08-10 criteria provided, single submitter 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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