ClinVar Miner

Submissions for variant NM_006734.4(HIVEP2):c.3957C>G (p.Ala1319=)

gnomAD frequency: 0.00040  dbSNP: rs190613471
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001817616 SCV002069011 likely benign not specified 2020-05-28 criteria provided, single submitter clinical testing
Invitae RCV002542544 SCV003251635 benign not provided 2024-01-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004536337 SCV004719216 likely benign HIVEP2-related disorder 2024-01-02 criteria provided, single submitter 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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