ClinVar Miner

Submissions for variant NM_004187.5(KDM5C):c.1660C>A (p.Pro554Thr) (rs387906729)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
OMIM	RCV000022891	SCV000044182	pathogenic	Mental retardation, syndromic, Claes-Jensen type, X-linked	2010-03-01	no assertion criteria provided	literature only

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