ClinVar Miner

Submissions for variant NM_023110.3(FGFR1):c.1962dup (p.Lys655Ter)

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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 RCV003234668 SCV003932500 pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia 2023-05-04 criteria provided, single submitter research The variant NM_023110.2:c.1962dup, p.(Lys655*) het has been classified as P1c based on the variant meeting the following ACMG Criteria: PVS1,PM2,PP3.

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