ClinVar Miner

Submissions for variant NM_000142.5(FGFR3):c.1014C>T (p.Thr338=) (rs4647928)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000247535 SCV000302606 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000247535 SCV000332472 benign not specified 2015-07-13 criteria provided, single submitter clinical testing
GeneDx RCV000247535 SCV000729010 benign not specified 2017-04-25 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 RCV000641210 SCV000762849 benign Craniosynostosis syndrome 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001289668 SCV001477634 benign none provided 2020-07-21 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000247535 SCV001800670 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579445 SCV001807263 likely benign not provided no assertion criteria provided clinical testing

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