Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000877413 | SCV001020147 | likely benign | Hereditary pheochromocytoma-paraganglioma | 2023-11-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001019603 | SCV001180984 | likely benign | Hereditary cancer-predisposing syndrome | 2018-11-08 | 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 |
RCV002510998 | SCV002822676 | likely benign | not provided | 2022-10-01 | criteria provided, single submitter | clinical testing | TMEM127: BP4, BP7 |