Submissions for variant NM_001853.4(COL9A3):c.1304C>A (p.Ala435Glu)

gnomAD frequency: 0.25404  dbSNP: rs751557

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000176546	SCV000228221	benign	not specified	2015-01-21	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000176546	SCV000308402	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000834407	SCV000976176	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.
Mendelics	RCV000990326	SCV001141266	benign	Epiphyseal dysplasia, multiple, 3	2019-05-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000834407	SCV001730820	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000990326	SCV001876267	benign	Epiphyseal dysplasia, multiple, 3	2021-07-30	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277378	SCV002566425	benign	Connective tissue disorder	2022-07-18	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000834407	SCV005311163	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000176546	SCV001742023	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000176546	SCV001809758	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000176546	SCV001957117	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000176546	SCV002038037	benign	not specified		no assertion criteria provided	clinical testing