ClinVar Miner

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

gnomAD frequency: 0.00016  dbSNP: rs201731610
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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 RCV000870484 SCV001011982 likely benign Carpenter syndrome 2024-02-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271834 SCV001453294 likely benign RAB23-related Carpenter syndrome 2020-09-16 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003930382 SCV004739565 likely benign RAB23-related disorder 2022-05-25 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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