Submissions for variant NM_013275.6(ANKRD11):c.6085G>A (p.Val2029Ile)

gnomAD frequency: 0.00003  dbSNP: rs199785661

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000983851	SCV001131887	benign	KBG syndrome	2025-01-07	criteria provided, single submitter	clinical testing
GeneDx	RCV001638027	SCV001848726	benign	not provided	2021-02-02	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000983851	SCV002525180	benign	KBG syndrome	2021-12-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002354888	SCV002657759	likely benign	Inborn genetic diseases	2022-07-12	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Fulgent Genetics, Fulgent Genetics	RCV000983851	SCV002799004	likely benign	KBG syndrome	2022-05-20	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001638027	SCV005253166	benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003972994	SCV004793187	benign	ANKRD11-related disorder	2020-07-14	no assertion criteria provided	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).