ClinVar Miner

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

gnomAD frequency: 0.00008  dbSNP: rs746123129
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001081619 SCV000644848 benign Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome 2024-01-25 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756157 SCV000883882 likely benign not provided 2017-09-14 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 criteria provided, single submitter 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).

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