Submissions for variant NM_000142.5(FGFR3):c.193G>A (p.Gly65Arg)

gnomAD frequency: 0.00097  dbSNP: rs2305178

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000121073	SCV000302623	likely benign	not specified		criteria provided, single submitter	clinical testing
Invitae	RCV001668274	SCV000762850	benign	not provided	2024-01-18	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001668274	SCV001473522	benign	not provided	2019-08-20	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000121073	SCV001880513	benign	not specified	2021-02-23	criteria provided, single submitter	clinical testing
GeneDx	RCV001668274	SCV001885017	benign	not provided	2019-02-19	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 28471124, 29072634, 22903874)
ITMI	RCV000121073	SCV000085241	not provided	not specified	2013-09-19	no assertion provided	reference population
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001668274	SCV002037077	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001668274	SCV002037734	likely benign	not provided		no assertion criteria provided	clinical testing