ClinVar Miner

Submissions for variant NM_012233.3(RAB3GAP1):c.423C>T (p.Ser141=)

gnomAD frequency: 0.00019  dbSNP: rs145748693
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001557121 SCV001778824 likely benign not provided 2020-03-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001557121 SCV003016477 benign not provided 2024-08-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004536178 SCV004722520 likely benign RAB3GAP1-related disorder 2020-03-17 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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