ClinVar Miner

Submissions for variant NM_023110.3(FGFR1):c.677G>A (p.Gly226Asp)

dbSNP: rs1246231808
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001724276 SCV001990648 uncertain significance not provided 2021-03-15 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 32666525, 30098700)
Reproductive Endocrine Unit, Massachusetts General Hospital RCV001251091 SCV003932521 likely pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia 2023-05-04 criteria provided, single submitter research
Department of Urology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology RCV001251091 SCV001426680 likely pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia no assertion criteria provided research
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001724276 SCV001957075 pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001724276 SCV001970569 likely pathogenic not provided no assertion criteria provided clinical testing

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