ClinVar Miner

Submissions for variant NM_000142.5(FGFR3):c.1349C>T (p.Thr450Met) (rs56240927)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000121085 SCV000224778 benign not specified 2015-04-09 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000755538 SCV000603705 benign not provided 2017-06-01 criteria provided, single submitter clinical testing
Invitae RCV001081068 SCV001014152 benign Craniosynostosis syndrome 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000755538 SCV001143910 benign not provided 2019-03-08 criteria provided, single submitter clinical testing
ITMI RCV000121085 SCV000085253 not provided not specified 2013-09-19 no assertion provided reference population
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000755538 SCV001800153 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000121085 SCV001808241 benign not specified no assertion criteria provided clinical testing

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