ClinVar Miner

Submissions for variant NM_000142.4(FGFR3):c.1959+8C>T (rs371666188)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000242184 SCV000302625 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV001078529 SCV000640370 benign Craniosynostosis syndrome 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000530520 SCV001143912 benign not provided 2018-12-29 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000530520 SCV001247235 likely benign not provided 2019-07-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001286043 SCV001472563 likely benign none provided 2020-02-12 criteria provided, single submitter clinical testing

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