ClinVar Miner

Submissions for variant NM_001256071.3(RNF213):c.12037G>A (p.Asp4013Asn) (rs397514563)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000032903 SCV000056674 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 RCV000032903 SCV000246195 likely pathogenic Moyamoya disease 2 2014-09-08 no assertion criteria provided research
UMR-S1161,Institut national de la santé et de la recherche médicale RCV000032903 SCV000546520 likely pathogenic Moyamoya disease 2 2017-03-03 no assertion criteria provided research

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