Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000165740 | SCV000216483 | likely benign | Hereditary cancer-predisposing syndrome | 2014-08-20 | 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. |
Invitae | RCV000205331 | SCV000259444 | likely benign | Ataxia-telangiectasia syndrome | 2024-01-07 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000205331 | SCV000789303 | likely benign | Ataxia-telangiectasia syndrome | 2017-01-24 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000165740 | SCV001343980 | likely benign | Hereditary cancer-predisposing syndrome | 2019-01-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001706083 | SCV001906616 | likely benign | not provided | 2018-11-16 | criteria provided, single submitter | clinical testing | |
KCCC/NGS Laboratory, |
RCV003316048 | SCV004016708 | likely benign | Familial cancer of breast | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003330525 | SCV004038263 | likely benign | not specified | 2023-08-07 | criteria provided, single submitter | clinical testing |