ClinVar Miner

Submissions for variant NM_016277.5(RAB23):c.482-9T>G

gnomAD frequency: 0.00001  dbSNP: rs777259479
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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 RCV002098136 SCV002385464 likely benign Carpenter syndrome 2022-02-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003903328 SCV004728090 likely benign RAB23-related disorder 2023-06-12 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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