Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001086989 | SCV000765348 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000735174 | SCV000863377 | uncertain significance | not provided | 2018-09-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002334128 | SCV002637015 | likely benign | Cardiovascular phenotype | 2019-03-26 | 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, |
RCV000735174 | SCV003820244 | uncertain significance | not provided | 2020-03-27 | criteria provided, single submitter | clinical testing |