Submissions for variant NM_080680.3(COL11A2):c.966C>A (p.Pro322=)

dbSNP: rs147527758

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000216407	SCV000270086	likely benign	not specified	2013-04-04	criteria provided, single submitter	clinical testing	p.Pro322Pro in exon 8 of COL11A2: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 10/65208 of Euro pean chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadins titute.org; dbSNP rs14752775).
GeneDx	RCV001697283	SCV000720018	likely benign	not provided	2021-04-16	criteria provided, single submitter	clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000680476	SCV000807852	likely benign	Connective tissue disorder	2018-06-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001697283	SCV002466543	likely benign	not provided	2024-01-25	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003937822	SCV004750242	likely benign	COL11A2-related disorder	2019-07-22	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).