Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001460559 | SCV001664436 | likely benign | Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 | 2021-10-23 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002354245 | SCV002651952 | likely benign | Inborn genetic diseases; Nephrolithiasis/nephrocalcinosis | 2021-05-01 | 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. |
Martin Pollak Laboratory, |
RCV000054615 | SCV000077305 | unknown | not provided | no assertion criteria provided | not provided | Converted during submission to Uncertain significance. |