ClinVar Miner

Submissions for variant NM_000142.5(FGFR3):c.882T>C (p.Asn294=) (rs2234909)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000253435 SCV000302639 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000253435 SCV000516268 benign not specified 2016-03-29 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.
Athena Diagnostics Inc RCV000711641 SCV000842027 benign not provided 2018-05-07 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000253435 SCV000863172 benign not specified 2018-08-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001283077 SCV001156730 benign none provided 2020-08-31 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000253435 SCV001742145 benign not specified no assertion criteria provided clinical testing

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