Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000176348 | SCV000333574 | uncertain significance | not provided | 2015-08-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001089153 | SCV001006466 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-15 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV001288570 | SCV001475779 | benign | not specified | 2020-07-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002426849 | SCV002742907 | likely benign | Cardiovascular phenotype | 2019-12-11 | 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. |