Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000116388 | SCV000303946 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Clinical Services Laboratory, |
RCV000392137 | SCV000427047 | likely benign | Familial hypercholesterolemia 1 | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000283635 | SCV000427048 | likely benign | Familial hypobetalipoproteinemia | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000116388 | SCV000519284 | benign | not specified | 2016-10-07 | 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 | RCV000655178 | SCV000777103 | benign | Familial hypercholesterolemia 2; Hypobetalipoproteinemia, familial, 1 | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Color | RCV000771028 | SCV000902524 | benign | Familial hypercholesterolemia | 2020-03-06 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000116388 | SCV000150312 | likely benign | not specified | no assertion criteria provided | clinical testing | Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed. |