ClinVar Miner

Submissions for variant NM_023110.3(FGFR1):c.921T>C (p.Tyr307=)

gnomAD frequency: 0.00009  dbSNP: rs377010221
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001412074 SCV001614146 likely benign Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome 2021-03-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493970 SCV002796661 likely benign Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson-Weiss syndrome; Pfeiffer syndrome; Hartsfield-Bixler-Demyer syndrome; Osteoglophonic dysplasia; Trigonocephaly 1; Encephalocraniocutaneous lipomatosis 2021-09-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004531255 SCV004754090 likely benign FGFR1-related disorder 2019-10-22 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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