Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
St. |
RCV000722035 | SCV000853212 | pathogenic | Glioblastoma | 2017-06-26 | criteria provided, single submitter | clinical testing | This is a frameshift alteration in which 8 nucleotides are deleted at coding nucleotides 1958 through 1965. This is predicted to change a Asparagine to a Isoleucine at amino acid codon 653, shift the reading frame and result in a premature stop codon 3 amino acids downstream. Classification criteria: PVS1, PP4. |