Submissions for variant NM_013275.6(ANKRD11):c.3660G>A (p.Arg1220=)

gnomAD frequency: 0.00142  dbSNP: rs150015583

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics Inc	RCV000710555	SCV000840796	benign	not provided	2018-04-16	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311997	SCV000846914	likely benign	Inborn genetic diseases	2016-06-21	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	RCV001083814	SCV001012269	benign	KBG syndrome	2023-12-11	criteria provided, single submitter	clinical testing
GeneDx	RCV000710555	SCV001842379	benign	not provided	2020-10-23	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001083814	SCV002524182	benign	KBG syndrome	2021-12-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000710555	SCV004143487	benign	not provided	2023-08-01	criteria provided, single submitter	clinical testing	ANKRD11: BP4, BP7, BS1, BS2