Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000806762 | SCV000946778 | likely benign | Parathyroid carcinoma | 2023-11-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002390613 | SCV002670709 | likely benign | Hereditary cancer-predisposing syndrome | 2022-06-27 | 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. |
Fulgent Genetics, |
RCV002495103 | SCV002784934 | uncertain significance | Hyperparathyroidism 1; Parathyroid carcinoma; Hyperparathyroidism 2 with jaw tumors | 2021-11-02 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003317375 | SCV004021708 | uncertain significance | not provided | 2023-01-23 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown. |