Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000221463 | SCV000274147 | likely benign | Hereditary cancer-predisposing syndrome | 2015-03-02 | 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. |
Gene |
RCV000603082 | SCV000724527 | likely benign | not specified | 2017-11-06 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Color Diagnostics, |
RCV000221463 | SCV001349321 | likely benign | Hereditary cancer-predisposing syndrome | 2019-02-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003607262 | SCV004387055 | likely benign | Familial cancer of breast | 2023-10-31 | criteria provided, single submitter | clinical testing | |
Leiden Open Variation Database | RCV000603082 | SCV001192979 | benign | not specified | 2018-10-10 | no assertion criteria provided | curation | Curators: Marc Tischkowitz, Arleen D. Auerbach. Submitter to LOVD: Yukihide Momozawa. |