ClinVar Miner

Submissions for variant NM_023110.3(FGFR1):c.1025T>C (p.Leu342Ser)

dbSNP: rs121909638
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Reproductive Endocrine Unit, Massachusetts General Hospital RCV003234536 SCV003932545 likely pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia 2023-05-04 criteria provided, single submitter research The variant has been classified as LP2 based on the variant meeting the following ACMG Criteria: PS3,PM2,PP3,PP2.
OMIM RCV000030933 SCV000037965 risk factor Hypogonadotropic hypogonadism 2 with anosmia 2007-02-01 no assertion criteria provided literature only

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