Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000996136 | SCV001150624 | likely benign | not provided | 2018-07-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001472756 | SCV001676894 | likely benign | Myofibrillar myopathy 4 | 2022-08-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002416277 | SCV002681667 | likely benign | Cardiovascular phenotype | 2019-03-05 | 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. |