Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000469064 | SCV000561362 | benign | Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002383891 | SCV001180047 | likely benign | Inborn genetic diseases; Nephrolithiasis/nephrocalcinosis | 2019-04-05 | 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. |
Center for Genomic Medicine, |
RCV003320658 | SCV004024946 | likely benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003424036 | SCV004155404 | likely benign | not provided | 2022-12-01 | criteria provided, single submitter | clinical testing | CASR: BP4, BP7 |