ClinVar Miner

Submissions for variant NM_023110.3(FGFR1):c.1988C>G (p.Pro663Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV003988714 SCV004804825 pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia 2024-01-26 criteria provided, single submitter clinical testing

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