Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000216736 | SCV000275525 | likely benign | Hereditary cancer-predisposing syndrome | 2019-03-26 | 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 |
RCV000444040 | SCV000513859 | likely benign | not specified | 2015-11-30 | 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. |
Invitae | RCV000533968 | SCV000634338 | likely benign | Microcephaly, normal intelligence and immunodeficiency | 2023-12-27 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001800556 | SCV002046391 | benign | not provided | 2020-11-11 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000533968 | SCV002078619 | likely benign | Microcephaly, normal intelligence and immunodeficiency | 2020-10-30 | no assertion criteria provided | clinical testing |