ClinVar Miner

Submissions for variant NM_023110.3(FGFR1):c.2298C>T (p.Tyr766=)

gnomAD frequency: 0.00014  dbSNP: rs376173540
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001462522 SCV001666440 likely benign Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome 2024-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000863134 SCV001772832 likely benign not provided 2021-04-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501219 SCV002796186 likely benign Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson-Weiss syndrome; Pfeiffer syndrome; Hartsfield-Bixler-Demyer syndrome; Osteoglophonic dysplasia; Trigonocephaly 1; Encephalocraniocutaneous lipomatosis 2021-12-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004538201 SCV004720060 likely benign FGFR1-related disorder 2019-03-22 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).

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