Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000518231 | SCV000616111 | likely benign | not specified | 2017-06-29 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000727307 | SCV000707458 | uncertain significance | not provided | 2017-04-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001435776 | SCV001638602 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2021-11-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002323883 | SCV002608353 | likely benign | Cardiovascular phenotype | 2019-11-19 | 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, |
RCV000727307 | SCV003824094 | uncertain significance | not provided | 2019-06-13 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000727307 | SCV004011265 | likely benign | not provided | 2023-05-01 | criteria provided, single submitter | clinical testing | TTN: BP4, BP7 |