Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000177502 | SCV000229378 | uncertain significance | not provided | 2017-06-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001488339 | SCV001692851 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2023-11-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002390432 | SCV002671380 | likely benign | Cardiovascular phenotype | 2020-05-18 | 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, |
RCV000177502 | SCV003823563 | uncertain significance | not provided | 2022-09-25 | criteria provided, single submitter | clinical testing |