Submissions for variant NM_013275.6(ANKRD11):c.4237G>A (p.Glu1413Lys)

gnomAD frequency: 0.00048  dbSNP: rs140373729

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	RCV000513923	SCV000611072	likely benign	not provided	2017-08-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002316464	SCV000849749	likely benign	Inborn genetic diseases	2017-05-31	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
Invitae	RCV001089026	SCV001131924	likely benign	KBG syndrome	2024-01-25	criteria provided, single submitter	clinical testing
GeneDx	RCV000513923	SCV001890787	benign	not provided	2021-01-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001089026	SCV002524177	benign	KBG syndrome	2021-12-05	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003925531	SCV004738299	likely benign	ANKRD11-related condition	2024-01-20	criteria provided, single submitter	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).