Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000220489 | SCV000273425 | likely benign | Hereditary cancer-predisposing syndrome | 2015-01-16 | 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. |
Invitae | RCV001085086 | SCV000284164 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000231846 | SCV000513667 | likely benign | not provided | 2021-05-18 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000220489 | SCV000690100 | likely benign | Hereditary cancer-predisposing syndrome | 2017-06-19 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000231846 | SCV001134359 | likely benign | not provided | 2022-10-24 | criteria provided, single submitter | clinical testing | |
KCCC/NGS Laboratory, |
RCV003316198 | SCV004015957 | likely benign | Lynch syndrome 1 | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004532775 | SCV004746795 | likely benign | MSH2-related disorder | 2019-09-18 | criteria provided, single submitter | 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). |
All of Us Research Program, |
RCV003997794 | SCV004832143 | likely benign | Lynch syndrome | 2024-01-11 | criteria provided, single submitter | clinical testing |