Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000114675 | SCV000633496 | likely benign | Familial cancer of breast | 2023-03-19 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000114675 | SCV000786277 | likely benign | Familial cancer of breast | 2018-04-02 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001525986 | SCV001736221 | likely benign | Hereditary cancer-predisposing syndrome | 2020-09-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001525986 | SCV003867651 | likely benign | Hereditary cancer-predisposing syndrome | 2022-11-06 | 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. |
Myriad Genetics, |
RCV000114675 | SCV004019710 | benign | Familial cancer of breast | 2023-03-31 | criteria provided, single submitter | clinical testing | This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing. |
Leiden Open Variation Database | RCV000114675 | SCV001193049 | benign | Familial cancer of breast | 2019-05-13 | no assertion criteria provided | curation | Curators: Marc Tischkowitz, Arleen D. Auerbach. Submitter to LOVD: Marc Tischkowitz. |