Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001503429 | SCV001708284 | likely benign | Neuronal ceroid lipofuscinosis | 2023-11-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002567961 | SCV003580415 | uncertain significance | Inborn genetic diseases | 2021-11-08 | criteria provided, single submitter | clinical testing | The c.199-4G>A intronic alteration consists of a G to A substitution 4 nucleotides before exon 3 of the CLN6 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |