Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001434122 | SCV001636924 | likely benign | Lipoic acid synthetase deficiency | 2018-04-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002542303 | SCV003559781 | uncertain significance | Inborn genetic diseases | 2021-07-08 | criteria provided, single submitter | clinical testing | The c.884-5T>A intronic alteration consists of a T to A substitution 5 nucleotides before coding exon 9 in the LIAS gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |