Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000184113 | SCV000236682 | benign | not specified | 2014-11-21 | 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. |
Eurofins Ntd Llc |
RCV000727528 | SCV000709491 | uncertain significance | not provided | 2017-06-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000617482 | SCV000737203 | likely benign | Cardiovascular phenotype | 2016-11-29 | 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. |
Invitae | RCV001089107 | SCV001021887 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2023-11-10 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000727528 | SCV001477169 | likely benign | not provided | 2019-11-12 | criteria provided, single submitter | clinical testing |