Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000592232 | SCV000705068 | uncertain significance | not provided | 2017-01-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001462969 | SCV001666898 | likely benign | Myofibrillar myopathy 4 | 2023-07-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000592232 | SCV001913740 | likely benign | not provided | 2021-06-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002456302 | SCV002614752 | likely benign | Cardiovascular phenotype | 2019-06-04 | 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. |