Submissions for variant NM_013275.6(ANKRD11):c.1851C>T (p.Gly617=)

gnomAD frequency: 0.00137  dbSNP: rs144309427

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002313658	SCV000848859	likely benign	Inborn genetic diseases	2016-09-01	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.
Invitae	RCV000874717	SCV001016934	benign	KBG syndrome	2024-01-15	criteria provided, single submitter	clinical testing
GeneDx	RCV001707852	SCV001935149	benign	not provided	2019-12-27	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000874717	SCV002524200	benign	KBG syndrome	2021-12-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001707852	SCV004143508	benign	not provided	2022-05-01	criteria provided, single submitter	clinical testing	ANKRD11: BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003928202	SCV004744380	likely benign	ANKRD11-related disorder	2023-01-18	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).