Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000625437 | SCV000745354 | benign | Hereditary sensory and autonomic neuropathy type 6 | 2017-06-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000979000 | SCV001126938 | 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 |
RCV001785683 | SCV002028058 | likely benign | not provided | 2021-05-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002395637 | SCV002697439 | likely benign | Inborn genetic diseases | 2019-07-11 | 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 |
RCV001785683 | SCV004032684 | benign | not provided | 2024-05-01 | criteria provided, single submitter | clinical testing | DST: BP4, BP7, BS1, BS2 |
Clinical Genetics, |
RCV001701418 | SCV001923718 | benign | not specified | no assertion criteria provided | clinical testing |