Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Academic Department of Medical Genetics, |
RCV000850052 | SCV000992194 | likely pathogenic | Hereditary cancer-predisposing syndrome | 2018-01-26 | criteria provided, single submitter | research | Application of AMCG guidelines 2015. Used other ClinVar submission evidence where relevant. Loss of heterozygosity in tumours or immunohistochemistry abnormalities considered functional evidence of pathogenicity. |
Genomics England Pilot Project, |
RCV001542761 | SCV001760197 | pathogenic | Lynch syndrome 4 | no assertion criteria provided | clinical testing |