Submissions for variant NM_080680.3(COL11A2):c.390G>C (p.Arg130=)

gnomAD frequency: 0.00163  dbSNP: rs149638770

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000350222	SCV000341763	likely benign	not specified	2016-06-07	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000350222	SCV000711009	benign	not specified	2016-04-08	criteria provided, single submitter	clinical testing	p.Arg130Arg in exon 03 of COL11A2: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wi thin the splice consensus sequence, and has been identified in 0.5% (52/10276) o f African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org; dbSNP rs149638770).
GeneDx	RCV001707615	SCV000720354	likely benign	not provided	2021-04-01	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001707615	SCV001473005	benign	not provided	2020-07-09	criteria provided, single submitter	clinical testing
Invitae	RCV001707615	SCV002398631	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003957490	SCV004774187	likely benign	COL11A2-related condition	2019-10-31	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).