ClinVar Miner

Submissions for variant NM_003380.5(VIM):c.749A>G (p.Gln250Arg)

gnomAD frequency: 0.00104  dbSNP: rs145152785
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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 RCV002547220 SCV001097895 likely benign Cataract 30 2024-10-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003943035 SCV004768548 likely benign VIM-related disorder 2020-02-18 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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