Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001860495 | SCV002169143 | uncertain significance | not provided | 2021-09-01 | criteria provided, single submitter | clinical testing | |
Human Genetics Section, |
RCV001829780 | SCV004708149 | likely pathogenic | Neuronal ceroid lipofuscinosis 2 | 2024-02-28 | criteria provided, single submitter | research | computational prediction tools unanimously support a deleterious effect on the gene. Extremely low frequency in GnomAD ( Total allele frequency in GnomAD 0.00001193). The variant is classified as likely pathogenic according to ACMG criteria. |
Natera, |
RCV001829780 | SCV002094805 | uncertain significance | Neuronal ceroid lipofuscinosis 2 | 2019-11-11 | no assertion criteria provided | clinical testing |