ClinVar Miner

Submissions for variant NM_022970.3(FGFR2):c.1945G>A (p.Ala649Thr) (rs121918508)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne RCV000014222 SCV000965758 pathogenic Levy-Hollister syndrome 2014-01-01 criteria provided, single submitter clinical testing
OMIM RCV000014222 SCV000034470 pathogenic Levy-Hollister syndrome 2006-04-01 no assertion criteria provided literature only

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