Submissions for variant NM_013275.6(ANKRD11):c.6746G>A (p.Arg2249His)

gnomAD frequency: 0.00154  dbSNP: rs201043388

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics Inc	RCV000710572	SCV000840814	benign	not provided	2018-02-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002317938	SCV000849879	likely benign	Inborn genetic diseases	2018-05-16	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	RCV002253578	SCV001015305	benign	KBG syndrome	2023-11-13	criteria provided, single submitter	clinical testing
GeneDx	RCV000710572	SCV001866927	benign	not provided	2020-05-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253578	SCV002525163	benign	KBG syndrome	2021-12-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000710572	SCV004143429	likely benign	not provided	2023-05-01	criteria provided, single submitter	clinical testing	ANKRD11: BP4, BS1
PreventionGenetics, part of Exact Sciences	RCV003965459	SCV004785437	benign	ANKRD11-related condition	2020-01-13	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).