ClinVar Miner

Submissions for variant NM_006766.5(KAT6A):c.710-3T>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004577075 SCV005060875 uncertain significance Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome criteria provided, single submitter clinical testing The splice region c.710-3T>C variant in KAT6A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is absent in gnomAD Exomes and 1000 Genomes. This splice region variant in intron 3 affects the position three nucleotides upstream of exon 4. For these reasons, this variant has been classified as Uncertain Significance.

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