Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001507228 | SCV000253347 | benign | Renal cell carcinoma | 2024-01-23 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000566209 | SCV000673716 | likely benign | Hereditary cancer-predisposing syndrome | 2016-08-17 | 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. |
Mendelics | RCV000987953 | SCV001137460 | likely benign | Papillary renal cell carcinoma type 1 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001550435 | SCV001770761 | likely benign | not provided | 2020-08-25 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000566209 | SCV002532136 | likely benign | Hereditary cancer-predisposing syndrome | 2021-07-03 | criteria provided, single submitter | curation | |
Ce |
RCV001550435 | SCV004158934 | likely benign | not provided | 2023-04-01 | criteria provided, single submitter | clinical testing | MET: BP7 |
Breakthrough Genomics, |
RCV001550435 | SCV005221495 | likely benign | not provided | criteria provided, single submitter | not provided | ||
Prevention |
RCV003907748 | SCV004723636 | likely benign | MET-related disorder | 2022-02-10 | 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). |