Submissions for variant NM_013275.6(ANKRD11):c.6106G>A (p.Asp2036Asn)

gnomAD frequency: 0.00654  dbSNP: rs201636725

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	RCV000435253	SCV000510923	likely benign	not provided	2017-01-13	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Ambry Genetics	RCV002314123	SCV000848319	benign	Inborn genetic diseases	2016-11-23	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: 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	RCV001088930	SCV001006072	benign	KBG syndrome	2024-01-30	criteria provided, single submitter	clinical testing
GeneDx	RCV000435253	SCV001943896	benign	not provided	2018-09-24	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001821149	SCV002066834	benign	not specified	2019-07-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001088930	SCV002525179	benign	KBG syndrome	2021-12-05	criteria provided, single submitter	clinical testing