Submissions for variant NM_001853.4(COL9A3):c.307C>T (p.Arg103Trp)

gnomAD frequency: 0.04577  dbSNP: rs61734651

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000178853	SCV000231018	benign	not specified	2015-02-05	criteria provided, single submitter	clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000178853	SCV000257904	benign	not specified	2015-02-05	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000178853	SCV000308421	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000834559	SCV000976329	benign	not provided	2018-06-05	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV000834559	SCV001730816	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002276557	SCV002566439	benign	Connective tissue disorder	2022-07-18	criteria provided, single submitter	clinical testing
OMIM	RCV000018677	SCV000038960	risk factor	Intervertebral disc disease, susceptibility to	2001-04-11	no assertion criteria provided	literature only
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000178853	SCV002035238	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000178853	SCV002037652	benign	not specified		no assertion criteria provided	clinical testing