Submissions for variant NM_001851.6(COL9A1):c.904G>A (p.Gly302Ser)

gnomAD frequency: 0.00207  dbSNP: rs151129325

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000180578	SCV000233048	benign	not specified	2017-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000836089	SCV000977919	likely benign	not provided	2021-06-09	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 30467950, 27535533, 26582918)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000836089	SCV001022450	likely benign	not provided	2024-01-25	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000836089	SCV004159700	likely benign	not provided	2023-08-01	criteria provided, single submitter	clinical testing	COL9A1: PP3, BS1
Mayo Clinic Laboratories, Mayo Clinic	RCV000836089	SCV004227283	uncertain significance	not provided	2023-01-13	criteria provided, single submitter	clinical testing	BS1, PP3
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000836089	SCV001799317	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000180578	SCV001920430	benign	not specified		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003917683	SCV004730882	benign	COL9A1-related disorder	2019-07-09	no assertion criteria provided	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).