Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000628761 | SCV000749667 | likely benign | Renal cell carcinoma | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002325195 | SCV002610108 | likely benign | Hereditary cancer-predisposing syndrome | 2022-06-13 | 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. |
Baylor Genetics | RCV003465384 | SCV004192546 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 97 | 2023-07-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV004760661 | SCV005372701 | uncertain significance | not provided | 2023-07-10 | 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 |