Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000333994 | SCV000347187 | likely benign | Immunodeficiency due to MASP-2 deficiency | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000260724 | SCV000482911 | likely benign | Amyotrophic Lateral Sclerosis, Dominant | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000316368 | SCV000482912 | likely benign | Frontotemporal dementia | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000963738 | SCV001110910 | benign | not provided | 2019-12-31 | criteria provided, single submitter | clinical testing |