Submissions for variant NM_001854.4(COL11A1):c.2921C>A (p.Pro974Gln)

gnomAD frequency: 0.00233  dbSNP: rs78046647

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000177980	SCV000229947	likely benign	not specified	2017-04-27	criteria provided, single submitter	clinical testing
GeneDx	RCV000767038	SCV000568779	likely benign	not provided	2021-02-26	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 22995991, 15922184, 30753492, 33570564)
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000680459	SCV000807834	likely benign	Connective tissue disorder	2018-06-01	criteria provided, single submitter	clinical testing
Invitae	RCV000767038	SCV001052276	likely benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000767038	SCV001143577	benign	not provided	2019-07-12	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV000680459	SCV002566638	uncertain significance	Connective tissue disorder	2020-03-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000767038	SCV004042439	benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	COL11A1: PP3, BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003917656	SCV004731606	likely benign	COL11A1-related condition	2021-02-16	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).