Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000531485 | SCV000651387 | likely benign | Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 | 2023-12-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001011952 | SCV001172341 | likely benign | Hereditary cancer-predisposing syndrome | 2018-02-05 | 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. |
Ce |
RCV003431099 | SCV004151945 | likely benign | not provided | 2022-05-01 | criteria provided, single submitter | clinical testing | SDHA: BP4, BP7 |