ClinVar Miner

Submissions for variant NM_001256071.3(RNF213):c.14429G>A (p.Arg4810Lys) (rs112735431)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000032902 SCV001140846 pathogenic Moyamoya disease 2 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001531872 SCV001747183 pathogenic not provided 2021-04-01 criteria provided, single submitter clinical testing
OMIM RCV000032902 SCV000056673 risk factor Moyamoya disease 2 2011-01-01 no assertion criteria provided literature only
Department of Internal Medicine, University of Texas Health Science Center at Houston RCV000032902 SCV000246198 likely pathogenic Moyamoya disease 2 2014-09-08 no assertion criteria provided research

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