Submissions for variant NM_000142.5(FGFR3):c.200G>A (p.Gly67Asp)

gnomAD frequency: 0.00001  dbSNP: rs369232922

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000658073	SCV000779844	likely benign	not provided	2019-08-21	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000765768	SCV000897156	uncertain significance	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; Malignant tumor of testis; Carcinoma of colon	2018-10-31	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000658073	SCV003327771	likely benign	not provided	2022-05-07	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004544915	SCV004771363	likely benign	FGFR3-related disorder	2023-07-06	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).