ClinVar Miner

Submissions for variant NM_001371986.1(UNC80):c.4890+7T>C

dbSNP: rs113342352
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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 RCV002159527 SCV002332303 likely benign not provided 2024-10-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004538775 SCV004710292 likely benign UNC80-related disorder 2022-10-24 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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