ClinVar Miner

Submissions for variant NM_006734.4(HIVEP2):c.1913A>G (p.Tyr638Cys)

gnomAD frequency: 0.00002  dbSNP: rs745452954
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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 RCV001332815 SCV001525239 uncertain significance Intellectual disability, autosomal dominant 43 2020-03-04 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Revvity Omics, Revvity RCV001332815 SCV003813178 uncertain significance Intellectual disability, autosomal dominant 43 2021-04-19 criteria provided, single submitter clinical testing

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