Submissions for variant NM_023110.3(FGFR1):c.1888C>T (p.Leu630=)

gnomAD frequency: 0.00008  dbSNP: rs746123129

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001081619	SCV000644848	benign	Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome	2025-01-05	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000756157	SCV000883882	benign	not provided	2024-01-18	criteria provided, single submitter	clinical testing
GeneDx	RCV000756157	SCV000968617	likely benign	not provided	2021-03-06	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002506352	SCV002795429	likely benign	Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson-Weiss syndrome; Pfeiffer syndrome; Hartsfield-Bixler-Demyer syndrome; Osteoglophonic dysplasia; Trigonocephaly 1; Encephalocraniocutaneous lipomatosis	2021-08-19	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004541713	SCV004761344	likely benign	FGFR1-related disorder	2020-08-25	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).