ClinVar Miner

Submissions for variant NM_006734.4(HIVEP2):c.194G>T (p.Gly65Val)

gnomAD frequency: 0.00232  dbSNP: rs61729347
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000883238 SCV001026528 likely benign not provided 2025-01-30 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252263 SCV002523428 likely benign See cases 2020-01-02 criteria provided, single submitter clinical testing ACMG classification criteria: PM2, BP1, BP4
CeGaT Center for Human Genetics Tuebingen RCV000883238 SCV004160429 likely benign not provided 2024-10-01 criteria provided, single submitter clinical testing HIVEP2: BP4, BS2
PreventionGenetics, part of Exact Sciences RCV004530920 SCV004752468 benign HIVEP2-related disorder 2020-02-13 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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