Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000473180 | SCV000554676 | likely benign | Multiple endocrine neoplasia type 4 | 2024-01-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000568592 | SCV000673208 | likely benign | Hereditary cancer-predisposing syndrome | 2023-05-15 | 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. |
Sema4, |
RCV000568592 | SCV002527682 | likely benign | Hereditary cancer-predisposing syndrome | 2021-03-15 | criteria provided, single submitter | curation | |
Gene |
RCV002260642 | SCV002540536 | uncertain significance | not provided | 2024-04-11 | criteria provided, single submitter | clinical testing | In silico analysis indicates that this missense variant does not alter protein structure/function; Observed in an individual with a small bowel neuroendocrine tumor (PMID: 26603463); This variant is associated with the following publications: (PMID: 26603463) |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV002260642 | SCV004220764 | benign | not provided | 2022-12-03 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003960046 | SCV004775725 | likely benign | CDKN1B-related disorder | 2022-05-31 | 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). |