ClinVar Miner

Submissions for variant NM_018947.6(CYCS):c.124G>A (p.Gly42Ser)

dbSNP: rs121918552
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851585 SCV000899301 likely pathogenic Thrombocytopenia 2019-02-01 criteria provided, single submitter research
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV000018419 SCV002505349 likely pathogenic Thrombocytopenia 4 criteria provided, single submitter research
OMIM RCV000018419 SCV000038701 pathogenic Thrombocytopenia 4 2014-02-01 no assertion criteria provided literature only

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