ClinVar Miner

Submissions for variant NM_001256071.3(RNF213):c.12059G>T (p.Cys4020Phe)

dbSNP: rs1599150380
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV000789042 SCV000928387 likely pathogenic Moyamoya disease 2 2018-09-10 criteria provided, single submitter clinical testing PM1, PM2, PP3, PP4

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