Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Equipe Genetique des Anomalies du Developpement, |
RCV001526532 | SCV001736954 | pathogenic | Familial multiple nevi flammei | criteria provided, single submitter | clinical testing | ||
Seattle Children's Hospital Molecular Genetics Laboratory, |
RCV002254352 | SCV002525661 | pathogenic | not provided | 2021-09-11 | criteria provided, single submitter | clinical testing | This variant has previously been reported as a somatic change in patients with vascular anomalies (PMID: 27058448, PMID: 30677207, PMID: ), and is absent from large population databases (Genome Aggregation Database v2.1.1). |