ClinVar Miner

Submissions for variant NM_004187.5(KDM5C):c.3656T>G (p.Leu1219Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV003128103 SCV003804266 likely pathogenic Syndromic X-linked intellectual disability Claes-Jensen type 2023-01-23 criteria provided, single submitter clinical testing

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