ClinVar Miner

Submissions for variant NM_006734.4(HIVEP2):c.2893C>T (p.Arg965Cys)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002914070 SCV003257409 likely benign not provided 2022-09-06 criteria provided, single submitter clinical testing
Molecular Genetics Lab, CHRU Brest RCV003883203 SCV004697777 uncertain significance Intellectual disability, autosomal dominant 43 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002914070 SCV005436320 likely benign not provided 2024-11-01 criteria provided, single submitter clinical testing HIVEP2: BS1

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