Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000118442 | SCV000315093 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Clinical Services Laboratory, |
RCV000349800 | SCV000461221 | benign | Emery-Dreifuss muscular dystrophy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000402931 | SCV000461222 | benign | Cerebellar ataxia | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000118442 | SCV000521419 | benign | not specified | 2016-06-08 | 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 | RCV000554379 | SCV000649029 | benign | Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2017-12-20 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000118442 | SCV000152848 | 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. |