Submissions for variant NM_013275.6(ANKRD11):c.3927G>A (p.Thr1309=)

dbSNP: rs143428884

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000873423	SCV001015415	benign	KBG syndrome	2024-01-09	criteria provided, single submitter	clinical testing
GeneDx	RCV001638009	SCV001848075	benign	not provided	2019-01-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001638009	SCV001961632	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	ANKRD11: BP4, BP7, BS1
Genome-Nilou Lab	RCV000873423	SCV002524179	benign	KBG syndrome	2021-12-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002372477	SCV002624923	likely benign	Inborn genetic diseases	2017-06-27	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000873423	SCV004564673	benign	KBG syndrome	2023-10-17	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003938327	SCV004751626	likely benign	ANKRD11-related condition	2019-03-07	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).