Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000118828 | SCV000153475 | uncertain significance | not provided | 2014-03-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000488918 | SCV000577094 | likely benign | not specified | 2018-03-12 | 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 | RCV000118828 | SCV001033121 | likely benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001167399 | SCV001329895 | likely benign | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Ce |
RCV000118828 | SCV001334932 | uncertain significance | not provided | 2020-02-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003915178 | SCV004737204 | likely benign | VLDLR-related condition | 2020-05-15 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Centre de Biologie Pathologie Génétique, |
RCV001252624 | SCV001428385 | uncertain significance | Intellectual disability | 2019-01-01 | no assertion criteria provided | clinical testing |