ClinVar Miner

Submissions for variant NM_023110.2(FGFR1):c.336C>T (p.Thr112=) (rs148480919)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000177332 SCV000229179 benign not specified 2015-02-05 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000177332 SCV000594767 likely benign not specified 2015-09-23 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756158 SCV000883883 benign not provided 2017-10-22 criteria provided, single submitter clinical testing
Invitae RCV001080712 SCV001004748 benign Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome 2019-12-31 criteria provided, single submitter clinical testing

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