Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000662945 | SCV000785906 | likely benign | Familial cancer of breast | 2018-01-08 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001147979 | SCV001308839 | likely benign | CHEK2-Related Cancer Susceptibility | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Color Diagnostics, |
RCV001181298 | SCV001346410 | likely benign | Hereditary cancer-predisposing syndrome | 2019-05-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000662945 | SCV002446156 | likely benign | Familial cancer of breast | 2023-10-28 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV000662945 | SCV004020072 | uncertain significance | Familial cancer of breast | 2023-03-07 | criteria provided, single submitter | clinical testing | This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk. |