Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000184111 | SCV000236670 | benign | not specified | 2014-11-07 | 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. |
Invitae | RCV001086311 | SCV000642815 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000184111 | SCV000857372 | likely benign | not specified | 2017-10-09 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000552070 | SCV001153196 | uncertain significance | not provided | 2016-06-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002415792 | SCV002725794 | benign | Cardiovascular phenotype | 2020-06-23 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |