Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003316235 | SCV000282711 | benign | Familial adenomatous polyposis 1 | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000247289 | SCV000301590 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Ambry Genetics | RCV000561494 | SCV000667330 | likely benign | Hereditary cancer-predisposing syndrome | 2015-07-01 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |
Color Diagnostics, |
RCV000561494 | SCV000681503 | likely benign | Hereditary cancer-predisposing syndrome | 2016-05-03 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000247289 | SCV000918454 | likely benign | not specified | 2019-08-20 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001711620 | SCV001943947 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
KCCC/NGS Laboratory, |
RCV003316235 | SCV004015814 | likely benign | Familial adenomatous polyposis 1 | 2023-07-07 | criteria provided, single submitter | clinical testing |