Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000176352 | SCV000227993 | uncertain significance | not provided | 2014-10-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001427412 | SCV001630089 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2022-10-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000176352 | SCV001824309 | likely benign | not provided | 2021-06-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002426850 | SCV002742210 | likely benign | Cardiovascular phenotype | 2019-12-13 | 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. |