Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000554430 | SCV000651443 | likely benign | Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002256390 | SCV002527751 | likely benign | Hereditary cancer-predisposing syndrome | 2020-09-22 | criteria provided, single submitter | curation | |
Ambry Genetics | RCV002256390 | SCV002638545 | likely benign | Hereditary cancer-predisposing syndrome | 2022-08-25 | 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. |