ClinVar Miner

Submissions for variant NM_001256071.3(RNF213):c.12343_12345del (p.Lys4115del)

dbSNP: rs797045187
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Internal Medicine, University of Texas Health Science Center at Houston RCV000191942 SCV000246189 likely pathogenic Moyamoya disease 2 2014-09-08 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV001261747 SCV001439063 likely pathogenic Moyamoya angiopathy no assertion criteria provided research

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