Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000172307 | SCV000051161 | uncertain significance | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Invitae | RCV000232325 | SCV000286723 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-09-07 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000172307 | SCV000707801 | uncertain significance | not provided | 2017-04-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002433753 | SCV002752698 | likely benign | Cardiovascular phenotype | 2020-07-21 | 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, |
RCV000172307 | SCV003820277 | uncertain significance | not provided | 2022-05-11 | criteria provided, single submitter | clinical testing | |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000172307 | SCV001957552 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000172307 | SCV001966664 | uncertain significance | not provided | no assertion criteria provided | clinical testing |