Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000842687 | SCV000984717 | likely benign | not provided | 2018-05-11 | 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. |
Invitae | RCV000842687 | SCV001069234 | likely benign | not provided | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV001449721 | SCV001652980 | benign | not specified | 2014-11-24 | criteria provided, single submitter | clinical testing | Ala275Ala in exon 6 of CACNA1D: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 2.6% (5/194) of Luhya (Kenyan) chromosomes from a broad population by the 1000 Genomes Project (http://www.ncbi.nlm.nih.gov/projects/SNP; dbSNP rs193196995). |