ClinVar Miner

Submissions for variant NM_006766.5(KAT6A):c.893C>T (p.Thr298Ile)

gnomAD frequency: 0.00002  dbSNP: rs199732997
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000784983 SCV000923530 uncertain significance Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 2019-01-01 criteria provided, single submitter clinical testing
Invitae RCV000898637 SCV001042854 likely benign not provided 2023-08-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV003372843 SCV004064633 likely benign Inborn genetic diseases 2023-08-28 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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