Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000714093 | SCV000237547 | likely benign | not provided | 2020-06-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001083823 | SCV000643671 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000714093 | SCV000701405 | uncertain significance | not provided | 2017-08-07 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000714093 | SCV000844760 | likely benign | not provided | 2019-11-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002336489 | SCV002634854 | likely benign | Cardiovascular phenotype | 2019-06-26 | 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, |
RCV000714093 | SCV003818358 | uncertain significance | not provided | 2020-10-06 | criteria provided, single submitter | clinical testing |