Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000177817 | SCV000229753 | uncertain significance | not provided | 2015-01-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001432061 | SCV001634825 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002408770 | SCV002680858 | likely benign | Cardiovascular phenotype | 2022-06-22 | 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. |