Submissions for variant NM_080680.3(COL11A2):c.2017-5T>G

gnomAD frequency: 0.00018  dbSNP: rs200523422

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000418538	SCV000228269	uncertain significance	not provided	2015-02-04	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000222871	SCV000268897	benign	not specified	2015-10-11	criteria provided, single submitter	clinical testing	c.2017-5T>G in intron 25 of COL11A2: This variant is not expected to have clinic al significance because it has been identified in 0.88% (133/15120) of South Asi an chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinsti tute.org; dbSNP rs200523422).
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000418538	SCV000511840	likely benign	not provided	2017-01-24	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
GeneDx	RCV000418538	SCV000726610	likely benign	not provided	2021-06-24	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000418538	SCV002402714	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277379	SCV002567194	likely benign	Connective tissue disorder	2019-12-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003977437	SCV004792627	likely benign	COL11A2-related disorder	2020-03-18	no assertion criteria provided	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).