ClinVar Miner

Submissions for variant NM_004187.5(KDM5C):c.1361_1362del (p.Pro454fs)

dbSNP: rs2146919819
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein RCV001771805 SCV002011740 pathogenic Syndromic X-linked intellectual disability Claes-Jensen type 2021-07-15 no assertion criteria provided clinical testing

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