Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002526151 | SCV000643865 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2023-10-05 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000726669 | SCV000702041 | uncertain significance | not provided | 2016-10-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000596681 | SCV000730427 | likely benign | not specified | 2017-02-06 | 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. |
Ambry Genetics | RCV003343910 | SCV004066431 | likely benign | Cardiovascular phenotype | 2023-07-12 | 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. |