ClinVar Miner

Submissions for variant NM_004663.5(RAB11A):c.294A>T (p.Thr98=)

dbSNP: rs148440353
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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 RCV002076663 SCV002327182 benign not provided 2025-02-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002076663 SCV005292990 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003911189 SCV004734868 likely benign RAB11A-related disorder 2019-05-23 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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