ClinVar Miner

Submissions for variant NM_000142.4(FGFR3):c.1535-8G>T (rs111460786)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000245969 SCV000302620 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000549686 SCV000640360 benign Craniosynostosis syndrome 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000245969 SCV000715138 benign not specified 2017-07-17 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.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573249 SCV001798819 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000245969 SCV001807305 benign not specified no assertion criteria provided clinical testing

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