ClinVar Miner

Submissions for variant NM_000142.5(FGFR3):c.169G>A (p.Val57Met) (rs61735064)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000121072 SCV000302622 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000121072 SCV000340036 likely benign not specified 2016-03-04 criteria provided, single submitter clinical testing
Invitae RCV000528972 SCV000640364 likely benign Craniosynostosis syndrome 2019-12-31 criteria provided, single submitter clinical testing
ITMI RCV000121072 SCV000085240 not provided not specified 2013-09-19 no assertion provided reference population

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