ClinVar Miner

Submissions for variant NM_000142.4(FGFR3):c.1076-16G>A (rs3135889)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000251398 SCV000302610 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000251398 SCV000716162 benign not specified 2017-09-07 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001285770 SCV001472253 benign none provided 2020-05-05 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000251398 SCV001800665 benign not specified no assertion criteria provided clinical testing

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