Submissions for variant NM_000142.5(FGFR3):c.882T>C (p.Asn294=)

gnomAD frequency: 0.20412  dbSNP: rs2234909

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000253435	SCV000302639	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000253435	SCV000516268	benign	not specified	2016-03-29	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 Inc	RCV000711641	SCV000842027	benign	not provided	2018-05-07	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000253435	SCV000863172	benign	not specified	2018-08-28	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000711641	SCV001156730	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Invitae	RCV000711641	SCV002507569	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000253435	SCV001742145	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000253435	SCV001924934	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000253435	SCV001955234	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000253435	SCV001963697	benign	not specified		no assertion criteria provided	clinical testing