ClinVar Miner

Submissions for variant NM_003380.5(VIM):c.282C>T (p.Thr94=)

gnomAD frequency: 0.00107  dbSNP: rs144539901
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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 RCV000960813 SCV001107836 benign Cataract 30 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004753142 SCV005360860 likely benign VIM-related disorder 2024-09-17 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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