Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
National Molecular Genetics Centre of Cancer Research, |
RCV000656740 | SCV000778308 | pathogenic | Familial adenomatous polyposis 1 | 2018-01-30 | criteria provided, single submitter | clinical testing | Detected in patient with clinical features of familial adenomatous polyposis. Variant c.2063C>A creates a premature stop codon p.Ser688* in the exon 16 of the APC mRNA. |