Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000172452 | SCV000051334 | uncertain significance | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Gene |
RCV000172452 | SCV000238069 | likely benign | not provided | 2021-04-29 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 23861362, 27321809, 24667040) |
Eurofins Ntd Llc |
RCV000172452 | SCV000336845 | uncertain significance | not provided | 2016-08-31 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000475682 | SCV000542774 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-12-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000622253 | SCV000736673 | likely benign | Cardiovascular phenotype | 2020-05-21 | 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. |
CHEO Genetics Diagnostic Laboratory, |
RCV001171055 | SCV001333724 | uncertain significance | Cardiomyopathy | 2017-11-10 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000172452 | SCV003824815 | uncertain significance | not provided | 2023-07-12 | criteria provided, single submitter | clinical testing |