Submissions for variant NM_000142.5(FGFR3):c.393G>A (p.Ser131=)

gnomAD frequency: 0.00292  dbSNP: rs55662109

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000192977	SCV000247375	benign	not specified	2018-02-28	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000192977	SCV000341125	benign	not specified	2016-04-20	criteria provided, single submitter	clinical testing
GeneDx	RCV000192977	SCV000516460	benign	not specified	2016-11-16	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	RCV000192977	SCV000613292	benign	not specified	2017-03-16	criteria provided, single submitter	clinical testing
Invitae	RCV001532498	SCV000762852	benign	not provided	2024-01-30	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001532498	SCV000883888	benign	not provided	2023-10-06	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001532498	SCV001748091	likely benign	not provided	2022-08-01	criteria provided, single submitter	clinical testing	FGFR3: BP4, BP7
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277457	SCV002566632	benign	Connective tissue disorder	2021-02-12	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001532498	SCV001798396	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001532498	SCV001808576	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001532498	SCV001952821	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001532498	SCV001968727	likely benign	not provided		no assertion criteria provided	clinical testing