ClinVar Miner

Submissions for variant NM_000142.4(FGFR3):c.615+8C>G (rs17878375)

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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 RCV000178713 SCV000230849 benign not specified 2015-01-20 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000178713 SCV000302634 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000178713 SCV000516463 benign not specified 2016-05-27 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 RCV000551422 SCV000640383 benign Craniosynostosis syndrome 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282666 SCV001156836 benign none provided 2020-04-24 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573806 SCV001800193 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001573806 SCV001807062 likely benign not provided no assertion criteria provided clinical testing

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