Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000116926 | SCV000309644 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000116926 | SCV000527063 | benign | not specified | 2016-07-20 | 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 | RCV001083489 | SCV000649608 | benign | Qualitative or quantitative defects of dysferlin | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000711547 | SCV000841926 | benign | not provided | 2018-02-13 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000116926 | SCV000151014 | 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. | |
Natera, |
RCV001274444 | SCV001458645 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2020-09-16 | no assertion criteria provided | clinical testing |