ClinVar Miner

Submissions for variant NM_016277.5(RAB23):c.51T>C (p.Asn17=)

gnomAD frequency: 0.00026  dbSNP: rs141279756
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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 RCV001408179 SCV001610171 likely benign Carpenter syndrome 2024-01-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001831442 SCV002083443 likely benign RAB23-related Carpenter syndrome 2019-10-24 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003908590 SCV004721873 likely benign RAB23-related disorder 2021-10-13 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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