Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000509413 | SCV000890378 | pathogenic | not provided | 2018-11-20 | criteria provided, single submitter | clinical testing | The Q96X variant in the BRPF1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q96X variant is not observed in large population cohorts (Lek et al., 2016). We interpret Q96X as a pathogenic variant. |
Genome |
RCV000509413 | SCV000606995 | not provided | not provided | no assertion provided | phenotyping only | GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. |