ClinVar Miner

Submissions for variant NM_004187.5(KDM5C):c.2114G>A (p.Arg705His)

dbSNP: rs1569264240
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000723335 SCV000854732 uncertain significance Syndromic X-linked intellectual disability Claes-Jensen type 2018-07-18 no assertion criteria provided clinical testing

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