ClinVar Miner

Submissions for variant NM_001791.4(CDC42):c.137T>C (p.Ile46Thr)

dbSNP: rs1570024112
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000824997 SCV000966185 likely pathogenic Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome 2018-06-12 criteria provided, single submitter clinical testing

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