ClinVar Miner

Submissions for variant NM_006766.5(KAT6A):c.1663del (p.Gln555fs)

dbSNP: rs1822554467
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV004577351 SCV001427540 pathogenic Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 2019-01-01 no assertion criteria provided clinical testing

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