Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155608 | SCV000205316 | uncertain significance | not specified | 2015-07-15 | criteria provided, single submitter | clinical testing | proposed classification - variant undergoing re-assessment, contact laboratory |
Gene |
RCV001719976 | SCV000237373 | likely benign | not provided | 2018-11-06 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000536562 | SCV000643466 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-02-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002453515 | SCV002617200 | likely benign | Cardiovascular phenotype | 2019-11-08 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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, |
RCV001719976 | SCV003826542 | uncertain significance | not provided | 2023-10-26 | criteria provided, single submitter | clinical testing |