Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000472138 | SCV000543363 | likely benign | Bloom syndrome | 2023-04-18 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000472138 | SCV000794886 | likely benign | Bloom syndrome | 2017-10-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002418356 | SCV002726523 | likely benign | Hereditary cancer-predisposing syndrome | 2022-01-31 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |