Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000118814 | SCV000231049 | benign | not specified | 2015-03-13 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000118814 | SCV000515252 | likely benign | not specified | 2016-12-19 | 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 | RCV000882448 | SCV001025688 | likely benign | not provided | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000882448 | SCV004161794 | likely benign | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | VLDLR: BS1 |
Genetic Services Laboratory, |
RCV000118814 | SCV000153461 | 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. |