Submissions for variant NM_000142.5(FGFR3):c.615+8C>G

gnomAD frequency: 0.02283  dbSNP: rs17878375

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000178713	SCV000230849	benign	not specified	2015-01-20	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000178713	SCV000302634	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000178713	SCV000516463	benign	not specified	2016-05-27	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	RCV001573806	SCV000640383	benign	not provided	2025-01-30	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001573806	SCV001156836	benign	not provided	2020-12-17	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001573806	SCV005306453	benign	not provided		criteria provided, single submitter	not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573806	SCV001800193	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001573806	SCV001807062	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000178713	SCV001952337	benign	not specified		no assertion criteria provided	clinical testing