Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000117294 | SCV000308753 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000117294 | SCV000519674 | benign | not specified | 2016-02-08 | 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 | RCV000546061 | SCV000648327 | benign | Congenital muscular dystrophy due to integrin alpha-7 deficiency | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000117294 | SCV001476631 | benign | not specified | 2020-08-12 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000117294 | SCV000151472 | 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. |