Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Revvity Omics, |
RCV001783778 | SCV002023587 | likely pathogenic | Fanconi anemia complementation group P | 2019-11-26 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001822004 | SCV002067346 | likely pathogenic | not provided | 2019-07-14 | criteria provided, single submitter | clinical testing | DNA sequence analysis of the SLX4 gene demonstrated a c.951-1G>T in the canonical splice acceptor site of intron 4. This likely pathogenic sequence change does not appear to have been previously described in patients with SLX4-related disorders and is absent from population databases such as ExAC and gnomAD. This likely pathogenic sequence change is predicted to affect normal splicing of the SLX4 gene and result in an abnormal protein. Truncating and splicing abnormalities in the SLX4 gene have been described in patients with Fanconi anemia. |