ClinVar Miner

Submissions for variant NM_022970.3(FGFR2):c.1087+1222G>T (rs121918504)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Genomic Statistics and Bioinformatics,University Hospital Bonn RCV000856813 SCV000999381 pathogenic Crouzon syndrome criteria provided, single submitter clinical testing
OMIM RCV000014212 SCV000034460 pathogenic Craniosynostosis, nonsyndromic unicoronal 2000-08-01 no assertion criteria provided literature only

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