ClinVar Miner

Submissions for variant NM_004187.5(KDM5C):c.2329G>C (p.Val777Leu)

dbSNP: rs2073052954
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV004799272 SCV001431063 uncertain significance Syndromic X-linked intellectual disability Claes-Jensen type 2021-12-22 criteria provided, single submitter clinical testing

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