Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000639480 | SCV000761055 | likely benign | Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 | 2023-10-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002325240 | SCV001178449 | likely benign | Inborn genetic diseases; Nephrolithiasis/nephrocalcinosis | 2019-07-23 | 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. |
Fulgent Genetics, |
RCV002507089 | SCV002808862 | likely benign | Familial hypocalciuric hypercalcemia 1; Neonatal severe primary hyperparathyroidism; Epilepsy, idiopathic generalized, susceptibility to, 8; Autosomal dominant hypocalcemia 1 | 2022-03-14 | criteria provided, single submitter | clinical testing |