Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000269507 | SCV000437521 | uncertain significance | Coffin-Siris syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000308154 | SCV000437522 | uncertain significance | Schwannomatosis | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000365158 | SCV000437523 | uncertain significance | Rhabdoid tumor predisposition syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000572980 | SCV000675226 | likely benign | Hereditary cancer-predisposing syndrome | 2017-06-20 | 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. |
Invitae | RCV001417685 | SCV001619890 | likely benign | not provided | 2023-12-10 | criteria provided, single submitter | clinical testing |