Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000793337 | SCV000932685 | likely benign | Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 | 2023-11-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002422682 | SCV002725772 | likely benign | Inborn genetic diseases; Nephrolithiasis/nephrocalcinosis | 2019-07-08 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |