Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000979008 | SCV001126946 | benign | Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001692330 | SCV001910162 | benign | not provided | 2021-05-20 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000979008 | SCV002794815 | likely benign | Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | 2022-02-10 | criteria provided, single submitter | clinical testing |