Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000726974 | SCV000532413 | likely benign | not provided | 2021-06-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001087292 | SCV000643340 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2023-12-11 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000726974 | SCV000704594 | uncertain significance | not provided | 2017-01-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002429430 | SCV002744532 | likely benign | Cardiovascular phenotype | 2020-01-13 | 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, |
RCV000726974 | SCV003825582 | uncertain significance | not provided | 2022-05-16 | criteria provided, single submitter | clinical testing |