Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000533722 | SCV000629343 | benign | Retinoblastoma | 2023-11-24 | criteria provided, single submitter | clinical testing | |
St. |
RCV000533722 | SCV000891026 | uncertain significance | Retinoblastoma | 2016-10-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001026275 | SCV001188620 | likely benign | Hereditary cancer-predisposing syndrome | 2023-01-06 | 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. |
All of Us Research Program, |
RCV000533722 | SCV004844626 | likely benign | Retinoblastoma | 2023-06-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV004772958 | SCV005383459 | uncertain significance | not provided | 2024-02-11 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 23516486, 35001307) |