Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000732828 | SCV000860820 | uncertain significance | not provided | 2018-04-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001078554 | SCV001064290 | likely benign | Bloom syndrome | 2023-10-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001019348 | SCV001180695 | likely benign | Hereditary cancer-predisposing syndrome | 2019-11-21 | 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. |
Natera, |
RCV001078554 | SCV002090530 | likely benign | Bloom syndrome | 2018-11-06 | no assertion criteria provided | clinical testing |