Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Preventiongenetics, |
RCV000116768 | SCV000308047 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000116768 | SCV000529273 | benign | not specified | 2016-09-23 | 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 | RCV000535101 | SCV000646752 | benign | Compton-North congenital myopathy | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000116768 | SCV001475026 | benign | not specified | 2019-10-29 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000116768 | SCV000150744 | 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. |