Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000337417 | SCV000338500 | uncertain significance | not provided | 2016-01-26 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000769837 | SCV000901263 | uncertain significance | Cardiomyopathy | 2017-02-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002411146 | SCV002675961 | likely benign | Cardiovascular phenotype | 2020-05-14 | 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. |
Fulgent Genetics, |
RCV002487185 | SCV002786873 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 | 2021-10-17 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000337417 | SCV003819622 | uncertain significance | not provided | 2019-08-20 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000337417 | SCV001978973 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000337417 | SCV001979501 | uncertain significance | not provided | no assertion criteria provided | clinical testing |