ClinVar Miner

Submissions for variant NM_000142.5(FGFR3):c.588C>T (p.Arg196=) (rs2305180)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000178714 SCV000230850 benign not specified 2015-04-09 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000178714 SCV000302632 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000178714 SCV000516529 benign not specified 2016-09-21 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.
Invitae RCV000536536 SCV000640382 benign Craniosynostosis syndrome 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001283279 SCV001156950 benign none provided 2020-01-16 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573014 SCV001798276 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000178714 SCV001809645 benign not specified no assertion criteria provided clinical testing

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