ClinVar Miner

Submissions for variant NM_006766.5(KAT6A):c.2947G>T (p.Gly983Cys)

dbSNP: rs1822089938
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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 RCV001329622 SCV001521114 uncertain significance Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 2019-03-25 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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