Submissions for variant NM_013275.6(ANKRD11):c.744+18C>G

gnomAD frequency: 0.00441  dbSNP: rs147328392

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514067	SCV000609832	benign	not provided	2017-09-27	criteria provided, single submitter	clinical testing
GeneDx	RCV000615550	SCV000727429	likely benign	not specified	2018-02-02	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV002060190	SCV002379974	benign	KBG syndrome	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002060190	SCV002524212	benign	KBG syndrome	2021-12-05	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002060190	SCV002798975	likely benign	KBG syndrome	2022-05-16	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000514067	SCV002822335	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	ANKRD11: BS1, BS2