Submissions for variant NM_013275.6(ANKRD11):c.2912C>T (p.Ala971Val)

gnomAD frequency: 0.66687  dbSNP: rs2279348

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002312288	SCV000846119	benign	Inborn genetic diseases	2016-03-11	criteria provided, single submitter	clinical testing	This alteration is classified as 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	RCV001510539	SCV001717602	benign	KBG syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001510539	SCV001775336	benign	KBG syndrome	2021-07-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001644785	SCV001858405	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529173	SCV001742199	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001529173	SCV001951325	benign	not specified		no assertion criteria provided	clinical testing