ClinVar Miner

Submissions for variant NM_023110.2(FGFR1):c.1888C>T (p.Leu630=) (rs746123129)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001081619 SCV000644848 benign Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756157 SCV000883882 likely benign not provided 2017-09-14 criteria provided, single submitter clinical testing
GeneDx RCV000756157 SCV000968617 likely benign not provided 2018-05-04 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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