ClinVar Miner

Submissions for variant NM_015015.3(KDM4B):c.2441+1G>A

dbSNP: rs746714213
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001800248 SCV002044420 likely pathogenic Intellectual developmental disorder, autosomal dominant 65 2022-09-08 criteria provided, single submitter clinical testing _x000D_ Criteria applied: PVS1, PS3_SUP

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