Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mayo Clinic Laboratories, |
RCV000660453 | SCV000782546 | uncertain significance | Aminoacylase 1 deficiency | 2016-12-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002532015 | SCV003697981 | uncertain significance | Inborn genetic diseases | 2022-04-27 | criteria provided, single submitter | clinical testing | Occurs in the last base pair of the exon Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |