ClinVar Miner

Submissions for variant NM_004187.5(KDM5C):c.1681C>G (p.Pro561Ala)

dbSNP: rs2146914266
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002244137 SCV002512439 uncertain significance Syndromic X-linked intellectual disability Claes-Jensen type 2022-02-08 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderate, PP2 supporting

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