Submissions for variant NM_000142.5(FGFR3):c.663G>A (p.Ser221=)

gnomAD frequency: 0.00485  dbSNP: rs114421370

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001724048	SCV000640385	benign	not provided	2024-01-30	criteria provided, single submitter	clinical testing
GeneDx	RCV000601160	SCV000728848	benign	not specified	2017-08-21	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000601160	SCV001159762	benign	not specified	2019-05-08	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000601160	SCV001808731	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001724048	SCV001955650	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001724048	SCV001967692	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001724048	SCV002037021	likely benign	not provided		no assertion criteria provided	clinical testing