ClinVar Miner

Submissions for variant NM_023110.3(FGFR1):c.2383G>A (p.Val795Ile)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002773637 SCV003589083 uncertain significance Inborn genetic diseases 2022-01-12 criteria provided, single submitter clinical testing (Trarbach, 2006) Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Reproductive Endocrine Unit, Massachusetts General Hospital RCV003234599 SCV003932600 uncertain significance Hypogonadotropic hypogonadism 2 with or without anosmia 2023-05-04 criteria provided, single submitter research

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