ClinVar Miner

Submissions for variant NM_023110.3(FGFR1):c.2059G>C (p.Gly687Arg)

dbSNP: rs727505376
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503490 SCV000594768 likely pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia 2017-03-30 criteria provided, single submitter clinical testing

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