Submissions for variant NM_013275.6(ANKRD11):c.6826C>T (p.Pro2276Ser)

dbSNP: rs201957371

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002318036	SCV000849648	likely benign	Inborn genetic diseases	2017-05-25	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	RCV001088985	SCV001013779	benign	KBG syndrome	2024-01-12	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000872029	SCV001143028	benign	not provided	2018-12-17	criteria provided, single submitter	clinical testing
GeneDx	RCV000872029	SCV001943899	benign	not provided	2020-04-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001088985	SCV002525159	benign	KBG syndrome	2021-12-05	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003908002	SCV004718710	benign	ANKRD11-related condition	2024-02-21	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).