Submissions for variant NM_013275.6(ANKRD11):c.6698G>A (p.Gly2233Glu)

gnomAD frequency: 0.00015  dbSNP: rs570265865

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002317418	SCV000850774	likely benign	Inborn genetic diseases	2018-05-21	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.
GeneDx	RCV001655583	SCV001869220	benign	not provided	2020-01-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253596	SCV002525167	benign	KBG syndrome	2021-12-05	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002253596	SCV003784576	benign	KBG syndrome	2023-12-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001655583	SCV004701740	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	ANKRD11: BP4
PreventionGenetics, part of Exact Sciences	RCV003938087	SCV004753562	benign	ANKRD11-related disorder	2019-11-12	no assertion criteria provided	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).