ClinVar Miner

Submissions for variant NM_023110.3(FGFR1):c.821A>G (p.Glu274Gly)

dbSNP: rs727505369
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Chan Lab, Boston Children's Hospital RCV000156951 SCV000206672 likely pathogenic Hypogonadotropic hypogonadism 7 with or without anosmia 2014-11-01 criteria provided, single submitter case-control
Chan Lab, Boston Children's Hospital RCV000156952 SCV000206673 likely pathogenic Delayed puberty 2014-11-01 criteria provided, single submitter case-control
Fulgent Genetics, Fulgent Genetics RCV002505182 SCV002800321 likely pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson-Weiss syndrome; Pfeiffer syndrome; Hartsfield-Bixler-Demyer syndrome; Osteoglophonic dysplasia; Trigonocephaly 1; Encephalocraniocutaneous lipomatosis 2021-07-18 criteria provided, single submitter clinical testing
Reproductive Endocrine Unit, Massachusetts General Hospital RCV003234546 SCV003932536 uncertain significance Hypogonadotropic hypogonadism 2 with or without anosmia 2023-05-04 criteria provided, single submitter research The variant has been classified as VUS based on the variant meeting the following ACMG Criteria: PM2,PP3.

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