Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000172277 | SCV000051284 | uncertain significance | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Invitae | RCV000464968 | SCV000542475 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2016-07-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000172277 | SCV000980539 | likely benign | not provided | 2019-12-18 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 23861362) |
Ambry Genetics | RCV002354440 | SCV002621130 | likely benign | Cardiovascular phenotype | 2020-05-21 | 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, |
RCV000172277 | SCV003819051 | uncertain significance | not provided | 2019-01-02 | criteria provided, single submitter | clinical testing |