ClinVar Miner

Submissions for variant NM_000142.5(FGFR3):c.393G>A (p.Ser131=) (rs55662109)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192977 SCV000247375 benign not specified 2018-02-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000192977 SCV000341125 benign not specified 2016-04-20 criteria provided, single submitter clinical testing
GeneDx RCV000192977 SCV000516460 benign not specified 2016-11-16 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.
Athena Diagnostics Inc RCV000192977 SCV000613292 benign not specified 2017-03-16 criteria provided, single submitter clinical testing
Invitae RCV000756162 SCV000762852 benign Craniosynostosis syndrome 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282310 SCV000883888 benign none provided 2020-04-13 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001532498 SCV001748091 likely benign not provided 2021-02-01 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001532498 SCV001798396 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001532498 SCV001808576 likely benign not provided no assertion criteria provided clinical testing

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