Submissions for variant NM_000142.5(FGFR3):c.1150T>C (p.Phe384Leu)

gnomAD frequency: 0.00342  dbSNP: rs17881656

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000121079	SCV000302611	likely benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000121079	SCV000331431	benign	not specified	2016-07-14	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000442867	SCV000511645	likely benign	not provided	2016-09-14	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000442867	SCV000603708	benign	not provided	2023-11-02	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000121079	SCV000613290	benign	not specified	2016-08-22	criteria provided, single submitter	clinical testing
Invitae	RCV000442867	SCV000640355	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000121079	SCV000729114	benign	not specified	2017-11-27	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.
Mendelics	RCV000987395	SCV001136683	likely benign	Hypochondroplasia	2019-05-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000442867	SCV002062535	likely benign	not provided	2023-08-01	criteria provided, single submitter	clinical testing	FGFR3: BP4, BS2
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277184	SCV002566618	likely benign	Connective tissue disorder	2021-06-18	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002483215	SCV002795789	likely benign	Achondroplasia; Camptodactyly-tall stature-scoliosis-hearing loss syndrome; Cervical cancer; Crouzon syndrome-acanthosis nigricans syndrome; Levy-Hollister syndrome; Muenke syndrome; Thanatophoric dysplasia type 1; Thanatophoric dysplasia, type 2; Malignant tumor of urinary bladder; Hypochondroplasia; Epidermal nevus; Severe achondroplasia-developmental delay-acanthosis nigricans syndrome; Colorectal cancer; Germ cell tumor of testis	2022-01-18	criteria provided, single submitter	clinical testing
ITMI	RCV000121079	SCV000085247	not provided	not specified	2013-09-19	no assertion provided	reference population
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000442867	SCV001739599	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000442867	SCV001797742	likely benign	not provided		no assertion criteria provided	clinical testing