ClinVar Miner

Submissions for variant NM_000142.4(FGFR3):c.130G>A (p.Gly44Ser) (rs146080119)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000121071 SCV000702006 likely benign not specified 2016-10-13 criteria provided, single submitter clinical testing
Invitae RCV000641214 SCV000762853 benign Craniosynostosis 2017-08-24 criteria provided, single submitter clinical testing
ITMI RCV000121071 SCV000085239 not provided not specified 2013-09-19 no assertion provided reference population

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