Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001085773 | SCV000761033 | likely benign | Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 | 2023-11-29 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000733764 | SCV000861861 | uncertain significance | not provided | 2018-06-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002325239 | SCV001178405 | likely benign | Inborn genetic diseases; Nephrolithiasis/nephrocalcinosis | 2019-09-29 | 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. |
Gene |
RCV000733764 | SCV002765779 | likely benign | not provided | 2020-10-09 | criteria provided, single submitter | clinical testing | See Variant Classification Assertion Criteria. |