Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000979003 | SCV001126941 | benign | Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001732002 | SCV001981848 | likely benign | not provided | 2021-04-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002391024 | SCV002674135 | likely benign | Inborn genetic diseases | 2023-07-31 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Ce |
RCV001732002 | SCV004032685 | benign | not provided | 2024-03-01 | criteria provided, single submitter | clinical testing | DST: BP4, BS1, BS2 |