ClinVar Miner

Submissions for variant NM_006766.5(KAT6A):c.5040_5051del (p.1677_1680QQPQ[1]) (rs548231613)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000719137 SCV000850002 benign History of neurodevelopmental disorder 2018-12-07 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other strong data supporting benign classification;Other data supporting benign classification
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000734463 SCV000862608 likely benign not specified 2018-07-30 criteria provided, single submitter clinical testing
Mendelics RCV000988054 SCV001137614 likely benign Mental retardation, autosomal dominant 32 2019-05-28 criteria provided, single submitter clinical testing

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