Submissions for variant NM_013275.6(ANKRD11):c.3977C>T (p.Thr1326Met)

gnomAD frequency: 0.00066  dbSNP: rs144673419

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	RCV000436122	SCV000511009	likely benign	not provided	2017-02-06	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Ambry Genetics	RCV002318374	SCV000850609	likely benign	Inborn genetic diseases	2017-04-20	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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	RCV001078483	SCV001018465	likely benign	KBG syndrome	2024-01-09	criteria provided, single submitter	clinical testing
GeneDx	RCV000436122	SCV001825441	likely benign	not provided	2021-02-19	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000436122	SCV003917859	likely benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	ANKRD11: BP4, BS1
PreventionGenetics, part of Exact Sciences	RCV003922689	SCV004738743	likely benign	ANKRD11-related condition	2021-01-20	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).