Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000541704 | SCV000623455 | benign | Renal cell carcinoma | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000573857 | SCV000673746 | likely benign | Hereditary cancer-predisposing syndrome | 2016-11-07 | 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. |
KCCC/NGS Laboratory, |
RCV003316671 | SCV004015842 | benign | Papillary renal cell carcinoma type 1 | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003935391 | SCV004749920 | likely benign | MET-related disorder | 2019-06-20 | 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). |