ClinVar Miner

Submissions for variant NM_006734.4(HIVEP2):c.1722C>T (p.Asp574=)

dbSNP: rs559329860
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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 RCV001820274 SCV002064650 benign not specified 2019-06-24 criteria provided, single submitter clinical testing
Invitae RCV002542599 SCV003279565 benign not provided 2023-07-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004542130 SCV004757736 likely benign HIVEP2-related disorder 2019-10-31 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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