ClinVar Miner

Submissions for variant NM_000142.4(FGFR3):c.1075+5C>T (rs3135885)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000243666 SCV000302608 benign not specified 2016-04-20 criteria provided, single submitter clinical testing
GeneDx RCV000243666 SCV000516530 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 RCV000533216 SCV000640353 benign Craniosynostosis syndrome 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001283280 SCV001156951 benign none provided 2020-01-16 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573485 SCV001799429 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000243666 SCV001809072 benign not specified no assertion criteria provided clinical testing

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