Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000474536 | SCV000554470 | likely benign | Hereditary pheochromocytoma-paraganglioma | 2024-01-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001009744 | SCV001169847 | likely benign | Hereditary cancer-predisposing syndrome | 2019-03-31 | 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. |