Submissions for variant NM_013275.6(ANKRD11):c.6712A>G (p.Ser2238Gly)

gnomAD frequency: 0.00016  dbSNP: rs770209899

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics Inc	RCV001644772	SCV000840812	likely benign	not specified	2020-12-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002317936	SCV000850870	likely benign	Inborn genetic diseases	2017-04-21	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.
GeneDx	RCV000710570	SCV001788792	likely benign	not provided	2020-11-20	criteria provided, single submitter	clinical testing
Invitae	RCV003117512	SCV003795861	likely benign	KBG syndrome	2023-11-27	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003907964	SCV004723480	likely benign	ANKRD11-related condition	2021-07-13	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).