ClinVar Miner

Submissions for variant NM_016277.5(RAB23):c.552G>C (p.Thr184=)

dbSNP: rs201731610
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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 RCV002162184 SCV002336742 likely benign Carpenter syndrome 2023-08-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003893113 SCV004716342 likely benign RAB23-related disorder 2021-09-09 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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