ClinVar Miner

Submissions for variant NM_023110.3(FGFR1):c.2209T>C (p.Trp737Arg)

dbSNP: rs727505377
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Chan Lab,Boston Children's Hospital RCV000156969 SCV000206690 likely pathogenic Hypogonadotropic hypogonadism 7 with or without anosmia 2014-11-01 criteria provided, single submitter case-control
Reproductive Endocrine Unit, Massachusetts General Hospital RCV003234550 SCV003932592 likely pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia 2023-05-04 criteria provided, single submitter research The variant has been classified as LP5 based on the variant meeting the following ACMG Criteria: PM6,PM2,PP3,PP2.

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