ClinVar Miner

Submissions for variant NM_022970.3(FGFR2):c.1087+1366A>G (rs879253721)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000014225 SCV000594772 pathogenic Pfeiffer syndrome 2016-07-15 criteria provided, single submitter clinical testing
OMIM RCV000014225 SCV000034473 pathogenic Pfeiffer syndrome 2004-08-01 no assertion criteria provided literature only
OMIM RCV000014226 SCV000034474 pathogenic Crouzon syndrome 2004-08-01 no assertion criteria provided literature only

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