Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000195564 | SCV000252250 | pathogenic | not provided | 2016-05-03 | criteria provided, single submitter | clinical testing | The Q376X nonsense variant in the SERAC1 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this variant has not been reported previously to our knowledge, Q376X is consistent with a disease-causing variant. |
Elsea Laboratory, |
RCV001250054 | SCV001424206 | pathogenic | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 2020-04-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001250054 | SCV002554781 | pathogenic | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 2022-03-15 | criteria provided, single submitter | clinical testing |