Submissions for variant NM_000142.5(FGFR3):c.1535-8G>T

gnomAD frequency: 0.00332  dbSNP: rs111460786

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000245969	SCV000302620	benign	not specified		criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001573249	SCV000640360	benign	not provided	2025-01-28	criteria provided, single submitter	clinical testing
GeneDx	RCV000245969	SCV000715138	benign	not specified	2017-07-17	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	RCV001573249	SCV002049364	likely benign	not provided	2020-12-17	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573249	SCV001798819	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000245969	SCV001807305	benign	not specified		no assertion criteria provided	clinical testing