Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000129674 | SCV000184473 | benign | Hereditary cancer-predisposing syndrome | 2017-10-10 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Gene |
RCV000212397 | SCV000210939 | benign | not specified | 2014-03-24 | 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. |
Counsyl | RCV000410804 | SCV000488952 | benign | Melanoma-pancreatic cancer syndrome | 2016-07-26 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000129674 | SCV000684502 | benign | Hereditary cancer-predisposing syndrome | 2016-07-20 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000590031 | SCV000695339 | benign | not provided | 2016-01-11 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000212397 | SCV000805815 | benign | not specified | 2016-12-13 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000212397 | SCV000888052 | benign | not specified | 2022-04-07 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001512796 | SCV001720260 | benign | Familial melanoma | 2023-12-06 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000129674 | SCV002534328 | benign | Hereditary cancer-predisposing syndrome | 2020-12-03 | criteria provided, single submitter | curation | |
Fulgent Genetics, |
RCV002505105 | SCV002808354 | likely benign | Melanoma-pancreatic cancer syndrome; Melanoma, cutaneous malignant, susceptibility to, 2; Melanoma and neural system tumor syndrome | 2021-11-29 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV000410804 | SCV004018556 | likely benign | Melanoma-pancreatic cancer syndrome | 2023-04-20 | criteria provided, single submitter | clinical testing | This variant is considered likely benign. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance. |
Center for Genomic Medicine, |
RCV000212397 | SCV004243351 | benign | not specified | 2024-02-06 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV000590031 | SCV005224109 | likely benign | not provided | criteria provided, single submitter | not provided |