Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001083723 | SCV000166527 | likely benign | Microcephaly, normal intelligence and immunodeficiency | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000212728 | SCV000170637 | benign | not specified | 2014-04-29 | 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. |
Ambry Genetics | RCV000127084 | SCV000213949 | likely benign | Hereditary cancer-predisposing syndrome | 2014-12-02 | 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. |
Preventiongenetics, |
RCV000679469 | SCV000806454 | likely benign | not provided | 2018-01-15 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000212728 | SCV000919844 | benign | not specified | 2019-08-10 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000212728 | SCV002070566 | likely benign | not specified | 2018-05-23 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000127084 | SCV002536729 | likely benign | Hereditary cancer-predisposing syndrome | 2021-01-27 | criteria provided, single submitter | curation | |
KCCC/NGS Laboratory, |
RCV003315819 | SCV004016059 | benign | Acute lymphoid leukemia | 2023-07-07 | criteria provided, single submitter | clinical testing |