ClinVar Miner

Submissions for variant NM_016277.5(RAB23):c.606C>T (p.Ser202=)

gnomAD frequency: 0.00002  dbSNP: rs771204930
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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 RCV001501304 SCV001706111 likely benign Carpenter syndrome 2024-02-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004728746 SCV005337130 likely benign RAB23-related disorder 2024-05-15 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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