Submissions for variant NM_001851.6(COL9A1):c.2299A>G (p.Met767Val)

gnomAD frequency: 0.04394  dbSNP: rs6910140

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000251679	SCV000308349	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000251679	SCV000524320	benign	not specified	2016-10-06	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.
Athena Diagnostics	RCV000710922	SCV000841232	benign	not provided	2018-08-10	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000710922	SCV001722269	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000710922	SCV001799323	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000251679	SCV001807994	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000251679	SCV001959163	benign	not specified		no assertion criteria provided	clinical testing