ClinVar Miner

Submissions for variant NM_000142.5(FGFR3):c.348C>T (p.Arg116=) (rs2305179)

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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 RCV000176993 SCV000228793 benign not specified 2015-04-09 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000176993 SCV000302629 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000176993 SCV000516528 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 RCV000538016 SCV000640379 benign Craniosynostosis syndrome 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001283278 SCV001156949 benign none provided 2020-02-07 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573046 SCV001798348 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000176993 SCV001808332 benign not specified no assertion criteria provided clinical testing

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