ClinVar Miner

Submissions for variant NM_006734.4(HIVEP2):c.3600A>C (p.Pro1200=)

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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 RCV003871767 SCV004683639 benign not provided 2024-01-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004539185 SCV004718748 likely benign HIVEP2-related disorder 2019-06-13 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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