ClinVar Miner

Submissions for variant NM_023110.3(FGFR1):c.1185C>T (p.Ile395=)

gnomAD frequency: 0.00001  dbSNP: rs756104594
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001463889 SCV001667841 likely benign Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome 2020-03-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002478972 SCV002799858 likely benign Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson-Weiss syndrome; Pfeiffer syndrome; Hartsfield-Bixler-Demyer syndrome; Osteoglophonic dysplasia; Trigonocephaly 1; Encephalocraniocutaneous lipomatosis 2021-08-27 criteria provided, single submitter clinical testing

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