Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Academic Department of Medical Genetics, |
RCV000850061 | SCV000992217 | 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. |
OMIM | RCV000022652 | SCV000043941 | risk factor | Pheochromocytoma, susceptibility to | 2011-06-19 | no assertion criteria provided | literature only |