ClinVar Miner

Submissions for variant NM_006766.5(KAT6A):c.3921_3922del (p.Glu1307fs)

dbSNP: rs2150856658
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital RCV001814614 SCV002060989 likely pathogenic Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome no assertion criteria provided case-control

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