Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000179298 | SCV000231524 | uncertain significance | not provided | 2015-05-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001084514 | SCV000761061 | likely benign | Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002319450 | SCV001177924 | likely benign | Inborn genetic diseases; Nephrolithiasis/nephrocalcinosis | 2019-03-11 | 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. |
Prevention |
RCV003947526 | SCV004760510 | likely benign | CASR-related condition | 2020-03-20 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |