Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Mayo Clinic Laboratories, |
RCV000726883 | SCV005412963 | uncertain significance | not provided | 2024-09-06 | criteria provided, single submitter | clinical testing | BP4 |
| Ambry Genetics | RCV002399693 | SCV002674609 | likely benign | Cardiovascular phenotype | 2020-03-04 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
| Labcorp Genetics |
RCV000643758 | SCV000765445 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-11-04 | criteria provided, single submitter | clinical testing | |
| Eurofins Ntd Llc |
RCV000726883 | SCV000703860 | uncertain significance | not provided | 2016-12-01 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV000185108 | SCV000237932 | likely benign | not specified | 2018-01-31 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |