ClinVar Miner

Submissions for variant NM_006734.4(HIVEP2):c.2853_2854del (p.Glu953fs)

dbSNP: rs2114653975
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomics England Pilot Project, Genomics England RCV001542656 SCV001760169 pathogenic Intellectual disability, autosomal dominant 43 no assertion criteria provided clinical testing

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