Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000532640 | SCV000652214 | likely benign | Neonatal-onset encephalopathy with rigidity and seizures | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002530198 | SCV003551134 | uncertain significance | Inborn genetic diseases | 2021-05-20 | criteria provided, single submitter | clinical testing | The c.1135-5C>T intronic alteration consists of a C to T substitution 5 nucleotides before exon 9 (coding exon 8) of the BRAT1 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |