Submissions for variant NM_001851.6(COL9A1):c.1862A>G (p.Gln621Arg)

gnomAD frequency: 0.38283  dbSNP: rs1135056

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000250680	SCV000308343	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000250680	SCV000524291	benign	not specified	2016-09-30	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001522336	SCV001731858	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001660214	SCV001876252	benign	Epiphyseal dysplasia, multiple, 6	2021-07-30	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000250680	SCV001741865	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000250680	SCV001808278	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000250680	SCV001951188	benign	not specified		no assertion criteria provided	clinical testing