Submissions for variant NM_013275.6(ANKRD11):c.6112A>G (p.Lys2038Glu)

gnomAD frequency: 0.00045  dbSNP: rs200724087

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514296	SCV000610523	likely benign	not provided	2017-03-09	criteria provided, single submitter	clinical testing
GeneDx	RCV000514296	SCV001846711	benign	not provided	2020-08-14	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 28529015)
Labcorp Genetics (formerly Invitae), Labcorp	RCV002060210	SCV002411794	likely benign	KBG syndrome	2024-12-24	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002060210	SCV002525177	benign	KBG syndrome	2021-12-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002358395	SCV002660527	likely benign	Inborn genetic diseases	2017-08-25	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.
CeGaT Center for Human Genetics Tuebingen	RCV000514296	SCV004143446	likely benign	not provided	2024-09-01	criteria provided, single submitter	clinical testing	ANKRD11: BP4, BS2
Revvity Omics, Revvity	RCV002060210	SCV004234454	uncertain significance	KBG syndrome	2023-10-27	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003960211	SCV004767316	likely benign	ANKRD11-related disorder	2020-02-24	no assertion criteria provided	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).