Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000165612 | SCV000216346 | likely benign | Hereditary cancer-predisposing syndrome | 2014-08-26 | 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. |
Counsyl | RCV000409495 | SCV000489452 | likely benign | Familial cancer of breast | 2016-10-05 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001721073 | SCV000527880 | likely benign | not provided | 2018-08-29 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000409495 | SCV000561119 | likely benign | Familial cancer of breast | 2025-01-02 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000165612 | SCV001345560 | likely benign | Hereditary cancer-predisposing syndrome | 2018-12-04 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV000409495 | SCV004019152 | benign | Familial cancer of breast | 2023-03-30 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV004782271 | SCV005394306 | likely benign | not specified | 2024-09-16 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004535115 | SCV004717802 | likely benign | PALB2-related disorder | 2020-09-21 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |