ClinVar Miner

Submissions for variant NM_006766.5(KAT6A):c.2218del (p.Arg740fs)

dbSNP: rs1587723169
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV001028031 SCV001190797 likely pathogenic Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 2020-02-05 no assertion criteria provided clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001028031 SCV001427757 pathogenic Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 2019-01-01 no assertion criteria provided clinical testing

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