ClinVar Miner

Submissions for variant NM_023110.3(FGFR1):c.1898_1899del (p.Glu633fs)

dbSNP: rs1815805060
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812408 SCV001471756 likely pathogenic not provided 2020-02-28 criteria provided, single submitter clinical testing
Reproductive Endocrine Unit, Massachusetts General Hospital RCV003234574 SCV003932499 pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia 2023-05-04 criteria provided, single submitter research The variant NM_023110.2:c.1898_1899del, p.(Glu633Glyfs*22) het has been classified as P1c based on the variant meeting the following ACMG Criteria: PVS1,PM2,PP3.

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