ClinVar Miner

Submissions for variant NM_004218.4(RAB11B):c.40+7C>T

gnomAD frequency: 0.00003  dbSNP: rs565286209
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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 RCV002155486 SCV002411266 benign not provided 2024-01-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003958801 SCV004769406 likely benign RAB11B-related disorder 2019-11-27 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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