ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: rs397514563
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000032903 SCV002518982 pathogenic Moyamoya disease 2 2022-05-04 criteria provided, single submitter clinical testing
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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