ClinVar Miner

Submissions for variant NM_002253.3(KDR):c.2066C>T (p.Thr689Met) (rs34038364)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000861134 SCV001001362 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
ITMI RCV000121297 SCV000085468 not provided not specified 2013-09-19 no assertion provided reference population
Department of Genetics, Reproduction and Fetal Medicine.,Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville. RCV000201301 SCV000222718 uncertain significance Hirschsprung disease 1 2015-04-01 no assertion criteria provided research

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