ClinVar Miner

Submissions for variant NM_016277.5(RAB23):c.481+10C>T

gnomAD frequency: 0.00004  dbSNP: rs546078370
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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 RCV002069416 SCV002345366 likely benign Carpenter syndrome 2023-02-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277916 SCV001464896 uncertain significance RAB23-related Carpenter syndrome 2020-08-07 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003953621 SCV004778496 likely benign RAB23-related disorder 2023-07-07 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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