Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000542645 | SCV000637373 | likely benign | Familial melanoma | 2024-12-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000571151 | SCV000669121 | likely benign | Hereditary cancer-predisposing syndrome | 2016-06-20 | 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. |
Myriad Genetics, |
RCV004787882 | SCV005404872 | 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 |
RCV003960303 | SCV004773078 | likely benign | CDK4-related disorder | 2020-01-29 | 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). |