Submissions for variant NM_013275.6(ANKRD11):c.5661A>G (p.Gln1887=)

gnomAD frequency: 0.00185  dbSNP: rs147726863

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000193420	SCV000246411	benign	not specified	2016-08-25	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000872096	SCV001013861	benign	KBG syndrome	2025-01-30	criteria provided, single submitter	clinical testing
GeneDx	RCV001682905	SCV001904905	benign	not provided	2021-03-17	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000872096	SCV002525190	benign	KBG syndrome	2021-12-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001682905	SCV002563363	likely benign	not provided	2024-09-01	criteria provided, single submitter	clinical testing	ANKRD11: BP4, BP7
Ambry Genetics	RCV002345686	SCV002653803	likely benign	Inborn genetic diseases	2017-09-21	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000872096	SCV005879799	benign	KBG syndrome	2024-11-12	criteria provided, single submitter	clinical testing