Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000166168 | SCV000216943 | likely benign | Hereditary cancer-predisposing syndrome | 2021-02-01 | 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 | RCV001083604 | SCV000218864 | likely benign | Multiple endocrine neoplasia, type 2 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003891440 | SCV000807006 | likely benign | RET-related condition | 2023-03-15 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Mendelics | RCV000709114 | SCV000838384 | benign | Multiple endocrine neoplasia, type 2a | 2018-07-02 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000679718 | SCV001777461 | likely benign | not provided | 2021-04-22 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 30877234, 21479187, 28946813, 20103606, 21834681, 25725622) |
Sema4, |
RCV000166168 | SCV002529932 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-10-25 | criteria provided, single submitter | curation |