ClinVar Miner

Submissions for variant NM_023110.3(FGFR1):c.2058del (p.Phe686fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Reproductive Endocrine Unit, Massachusetts General Hospital RCV003234672 SCV003932507 pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia 2023-05-04 criteria provided, single submitter research The variant NM_023110.2:c.2058del, p.(Phe686Leufs*28) het has been classified as P1a based on the variant meeting the following ACMG Criteria: PVS1,PS2,PM2,PP3.

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