ClinVar Miner

Submissions for variant NM_023110.3(FGFR1):c.1043G>A (p.Gly348Glu)

dbSNP: rs1818930617
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Urology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology RCV001251089 SCV001426678 likely pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia no assertion criteria provided research

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