Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000714053 | SCV000238005 | likely benign | not provided | 2021-11-23 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000714053 | SCV000700994 | uncertain significance | not provided | 2017-04-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001079944 | SCV000765136 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000714053 | SCV000844718 | likely benign | not provided | 2018-05-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002345663 | SCV002643166 | likely benign | Cardiovascular phenotype | 2019-11-15 | 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, |
RCV000714053 | SCV003820269 | uncertain significance | not provided | 2022-04-25 | criteria provided, single submitter | clinical testing |