Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000712499 | SCV000707388 | uncertain significance | not provided | 2018-05-11 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000712499 | SCV000843002 | uncertain significance | not provided | 2018-06-28 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001498426 | SCV001703176 | likely benign | Cholestanol storage disease | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000712499 | SCV002562707 | uncertain significance | not provided | 2022-02-11 | criteria provided, single submitter | clinical testing | 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 |
Ambry Genetics | RCV002395534 | SCV002700890 | likely benign | Cardiovascular phenotype | 2021-10-25 | 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. |