ClinVar Miner

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

gnomAD frequency: 0.00328  dbSNP: rs4647928
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000247535 SCV000302606 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) 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 RCV001579445 SCV000762849 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001579445 SCV001477634 benign not provided 2020-07-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001579445 SCV001962550 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing FGFR3: BP4, BP7, BS2
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
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001579445 SCV001951124 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001579445 SCV001975768 likely benign not provided no assertion criteria provided clinical testing

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