ClinVar Miner

Submissions for variant NM_023110.3(FGFR1):c.6G>A (p.Trp2Ter)

dbSNP: rs1554594114
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Yale Center for Mendelian Genomics, Yale University RCV000662312 SCV000784644 likely pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia 2016-12-16 no assertion criteria provided literature only

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