Submissions for variant NM_006766.5(KAT6A):c.5740A>G (p.Met1914Val)

gnomAD frequency: 0.00010  dbSNP: rs750315709

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514297	SCV000610239	uncertain significance	not provided	2017-08-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002316460	SCV000849952	benign	Inborn genetic diseases	2019-07-17	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
CeGaT Center for Human Genetics Tuebingen	RCV000514297	SCV001155415	likely benign	not provided	2018-03-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000514297	SCV001845350	benign	not provided	2020-02-10	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000514297	SCV002145921	likely benign	not provided	2024-01-06	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003962418	SCV004782374	likely benign	KAT6A-related disorder	2021-09-03	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).