Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001045340 | SCV001209181 | benign | Bethlem myopathy 1 | 2023-12-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002553120 | SCV003650393 | likely benign | Inborn genetic diseases | 2022-10-26 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |
Revvity Omics, |
RCV003145278 | SCV003832575 | uncertain significance | not provided | 2023-06-30 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003145278 | SCV004149928 | likely benign | not provided | 2023-03-01 | criteria provided, single submitter | clinical testing | COL6A2: BP4 |