Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000564786 | SCV000669111 | likely benign | Hereditary cancer-predisposing syndrome | 2017-03-15 | 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. |
Labcorp Genetics |
RCV000869772 | SCV001011227 | likely benign | Familial melanoma | 2024-10-12 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001290614 | SCV001478715 | likely benign | not specified | 2021-01-15 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV003478256 | SCV004220851 | likely benign | not provided | 2022-10-07 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV004787939 | SCV005404183 | benign | Melanoma, cutaneous malignant, susceptibility to, 3 | 2024-09-25 | criteria provided, single submitter | clinical testing | This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing. |
Prevention |
RCV003980053 | SCV004795548 | likely benign | CDK4-related disorder | 2023-12-14 | no assertion criteria provided | 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). |