Submissions for variant NM_080680.3(COL11A2):c.4863+7G>A

gnomAD frequency: 0.00016  dbSNP: rs200947059

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000155699	SCV000205409	benign	not specified	2017-07-27	criteria provided, single submitter	clinical testing	c.4863+7G>A in intron 64 of COL11A2: This variant is not expected to have clinic al significance because it is not located within the conserved splice consensus sequence. It has been identified in 1% (259/ 25154) of Latino chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs 200947059).
Eurofins Ntd Llc (ga)	RCV000724273	SCV000231926	uncertain significance	not provided	2014-12-10	criteria provided, single submitter	clinical testing
GeneDx	RCV000724273	SCV000716238	likely benign	not provided	2018-07-23	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000724273	SCV001143585	likely benign	not provided	2018-11-09	criteria provided, single submitter	clinical testing
Invitae	RCV000724273	SCV001724548	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003907480	SCV004727372	benign	COL11A2-related condition	2019-04-08	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).