Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001082188 | SCV000555319 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000602940 | SCV000730975 | likely benign | not specified | 2017-08-04 | 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. |
Athena Diagnostics Inc | RCV000714042 | SCV000844705 | likely benign | not provided | 2018-05-25 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000714042 | SCV001715768 | uncertain significance | not provided | 2020-11-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002418442 | SCV002730313 | likely benign | Cardiovascular phenotype | 2019-05-13 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Revvity Omics, |
RCV000714042 | SCV003826741 | uncertain significance | not provided | 2022-09-21 | criteria provided, single submitter | clinical testing |