Submissions for variant NM_001853.4(COL9A3):c.308G>A (p.Arg103Gln)

gnomAD frequency: 0.00847  dbSNP: rs142639450

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000178854	SCV000231019	benign	not specified	2015-03-07	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000178854	SCV000308422	benign	not specified		criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000178854	SCV001475625	benign	not specified	2020-08-06	criteria provided, single submitter	clinical testing
Invitae	RCV001521625	SCV001730999	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001521625	SCV001840608	benign	not provided	2018-10-31	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 30467950)
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277413	SCV002566440	benign	Connective tissue disorder	2022-03-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001521625	SCV004033896	benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	COL9A3: BS1, BS2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001521625	SCV001798882	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000178854	SCV001807699	benign	not specified		no assertion criteria provided	clinical testing