ClinVar Miner

Submissions for variant NM_177972.3(TUB):c.1388-10T>G

gnomAD frequency: 0.00097  dbSNP: rs150402974
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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 RCV001518669 SCV001727410 benign not provided 2025-01-17 criteria provided, single submitter clinical testing
New York Genome Center RCV003227979 SCV003925439 uncertain significance Retinal dystrophy and obesity 2022-04-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003940949 SCV004750702 likely benign TUB-related disorder 2021-09-24 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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