ClinVar Miner

Submissions for variant NM_006766.5(KAT6A):c.2463del (p.Asn821fs)

dbSNP: rs1661324893
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001337002 SCV001530556 pathogenic Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 2018-08-29 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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