ClinVar Miner

Submissions for variant NM_012233.3(RAB3GAP1):c.639A>G (p.Lys213=)

gnomAD frequency: 0.00006  dbSNP: rs757688969
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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 RCV000945754 SCV001091806 benign not provided 2024-01-23 criteria provided, single submitter clinical testing
GeneDx RCV000945754 SCV001768459 likely benign not provided 2020-09-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004543542 SCV004766742 likely benign RAB3GAP1-related disorder 2022-03-09 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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