ClinVar Miner

Submissions for variant NM_004187.5(KDM5C):c.3332_3335del (p.Asp1111fs)

dbSNP: rs1934728804
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Lab, CHRU Brest RCV003883170 SCV004697697 likely pathogenic Syndromic X-linked intellectual disability Claes-Jensen type criteria provided, single submitter clinical testing
Autoinflammatory diseases unit, CHU de Montpellier RCV001261287 SCV001438273 pathogenic Hirsutism; Intellectual disability 2019-05-17 no assertion criteria provided clinical testing

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