ClinVar Miner

Submissions for variant NM_000142.5(FGFR3):c.678C>T (p.Tyr226=) (rs141575580)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000179257 SCV000231478 benign not specified 2015-04-22 criteria provided, single submitter clinical testing
Invitae RCV000641217 SCV000762856 benign Craniosynostosis syndrome 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001532499 SCV001748092 likely benign not provided 2021-06-01 criteria provided, single submitter clinical testing
GeneDx RCV001532499 SCV001783852 likely benign not provided 2021-06-22 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000179257 SCV001799955 benign not specified no assertion criteria provided clinical testing

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