ClinVar Miner

Submissions for variant NM_023110.3(FGFR1):c.296A>G (p.Tyr99Cys)

dbSNP: rs727505373
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Chan Lab,Boston Children's Hospital RCV000156961 SCV000206682 likely pathogenic Hypogonadotropic hypogonadism 7 with or without anosmia 2014-11-01 criteria provided, single submitter case-control
Chan Lab,Boston Children's Hospital RCV000156962 SCV000206683 likely pathogenic Delayed puberty 2014-11-01 criteria provided, single submitter case-control
Reproductive Endocrine Unit, Massachusetts General Hospital RCV003234549 SCV003932584 pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia 2023-05-04 criteria provided, single submitter research The variant has been classified as P2 based on the variant meeting the following ACMG Criteria: PS3,PM2,PP3, PP1.

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