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

dbSNP: rs548231613

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002318702	SCV000850002	benign	Inborn genetic diseases	2018-12-07	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.
Eurofins Ntd Llc (ga)	RCV000734463	SCV000862608	likely benign	not specified	2018-07-30	criteria provided, single submitter	clinical testing
Mendelics	RCV000988054	SCV001137614	likely benign	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	2019-05-28	criteria provided, single submitter	clinical testing
GeneDx	RCV001672942	SCV001888072	benign	not provided	2019-02-20	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001672942	SCV002332350	likely benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001672942	SCV004010782	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	KAT6A: BS1