ClinVar Miner

Submissions for variant NM_006766.5(KAT6A):c.4324G>A (p.Ala1442Thr) (rs113195648)

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Total submissions: 3
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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 RCV000715478 SCV000846307 benign History of neurodevelopmental disorder 2016-04-26 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
Invitae RCV000514053 SCV001101339 benign not provided 2018-01-10 criteria provided, single submitter clinical testing

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