ClinVar Miner

Submissions for variant NM_001256071.3(RNF213):c.12553A>G (p.Lys4185Glu)

dbSNP: rs1568149971
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GOSgene, University College London Great Ormond Street Institute of Child Health RCV000754708 SCV000839587 likely pathogenic Moyamoya disease 2 2018-09-11 criteria provided, single submitter case-control

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