Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002206047 | SCV002378260 | likely benign | not provided | 2021-06-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002361475 | SCV002666252 | likely benign | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2019-10-10 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV004526179 | SCV005040474 | benign | not specified | 2024-03-03 | criteria provided, single submitter | clinical testing | |
Ce |
RCV002206047 | SCV005435496 | likely benign | not provided | 2024-09-01 | criteria provided, single submitter | clinical testing | LZTR1: BP4, BP7 |