Submissions for variant NM_006766.5(KAT6A):c.2791G>A (p.Gly931Arg)

gnomAD frequency: 0.00004  dbSNP: rs779101695

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Baylor Genetics	RCV001329621	SCV001521113	uncertain significance	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	2019-03-02	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics	RCV002546343	SCV003638939	likely benign	Inborn genetic diseases	2022-08-30	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV003770820	SCV004651357	likely benign	not provided	2023-10-24	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV003770820	SCV005195904	uncertain significance	not provided		criteria provided, single submitter	not provided