Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001720103 | SCV000520588 | likely benign | not provided | 2020-01-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000474020 | SCV000562876 | likely benign | Long QT syndrome | 2024-01-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000619335 | SCV000735939 | likely benign | Cardiovascular phenotype | 2017-07-19 | 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. |