Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000699862 | SCV000828592 | likely benign | Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 | 2023-11-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002319091 | SCV001185118 | uncertain significance | Inborn genetic diseases; Nephrolithiasis/nephrocalcinosis | 2022-07-08 | criteria provided, single submitter | clinical testing | The c.492+5T>A intronic variant results from a T to A substitution 5 nucleotides after coding exon 2 in the CASR gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Center for Genomic Medicine, |
RCV002268260 | SCV002550871 | uncertain significance | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing |