ClinVar Miner

Submissions for variant NM_006766.5(KAT6A):c.4324G>A (p.Ala1442Thr)

gnomAD frequency: 0.00745  dbSNP: rs113195648
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514053 SCV000610640 likely benign not provided 2017-04-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311834 SCV000846307 benign Inborn genetic diseases 2016-04-26 criteria provided, single submitter clinical testing This alteration is classified as 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.
Invitae RCV000514053 SCV001101339 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000514053 SCV001867595 benign not provided 2020-10-27 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821444 SCV002071503 benign not specified 2019-06-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000514053 SCV002545614 benign not provided 2023-11-01 criteria provided, single submitter clinical testing KAT6A: BP4, BS1, BS2
Fulgent Genetics, Fulgent Genetics RCV002496984 SCV002804435 likely benign Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 2021-12-30 criteria provided, single submitter clinical testing

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