Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000222719 | SCV000268814 | benign | not specified | 2014-11-24 | criteria provided, single submitter | clinical testing | Asp368Asp in exon 7 of CACNA1D: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 46.7% (4012/8600) of European American chromosomes from a broad population by the NHLBI Exome Sequ encing Project (http://evs.gs.washington.edu/EVS; dbSNP rs2250736). |
Gene |
RCV000222719 | SCV000716939 | benign | not specified | 2017-05-09 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Genome- |
RCV001554661 | SCV001775933 | benign | Aldosterone-producing adenoma with seizures and neurological abnormalities | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000615002 | SCV001775934 | benign | Sinoatrial node dysfunction and deafness | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002057064 | SCV002338906 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
KCCC/NGS Laboratory, |
RCV001554661 | SCV004016948 | benign | Aldosterone-producing adenoma with seizures and neurological abnormalities | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV000615002 | SCV000734287 | benign | Sinoatrial node dysfunction and deafness | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000222719 | SCV001923169 | benign | not specified | no assertion criteria provided | clinical testing |