ClinVar Miner

Submissions for variant NM_006734.4(HIVEP2):c.4465C>G (p.Arg1489Gly)

gnomAD frequency: 0.00006  dbSNP: rs768721723
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001335462 SCV001528615 uncertain significance Intellectual disability, autosomal dominant 43 2018-06-11 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV002546734 SCV003514565 likely benign not provided 2024-12-28 criteria provided, single submitter clinical testing

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