Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000172484 | SCV000051236 | uncertain significance | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Invitae | RCV000477223 | SCV000542568 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2018-01-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000172484 | SCV000714987 | likely benign | not provided | 2020-07-10 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 23861362) |
Ambry Genetics | RCV000622026 | SCV000735986 | likely benign | Cardiovascular phenotype | 2020-06-17 | 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. |
Athena Diagnostics Inc | RCV000172484 | SCV000844670 | uncertain significance | not provided | 2017-09-15 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000172484 | SCV000855033 | uncertain significance | not provided | 2018-06-15 | criteria provided, single submitter | clinical testing |