Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000931464 | SCV001077130 | likely benign | Vici syndrome | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002544437 | SCV003552754 | uncertain significance | Inborn genetic diseases | 2021-04-29 | criteria provided, single submitter | clinical testing | The c.1944-3C>T intronic alteration consists of a C to T substitution 3 nucleotides before exon 10 of the EPG5 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |