Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000525867 | SCV000654844 | benign | Arrhythmogenic right ventricular dysplasia 13 | 2024-01-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001770476 | SCV002004665 | likely benign | not provided | 2020-10-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002431702 | SCV002729278 | likely benign | Inborn genetic diseases | 2022-02-17 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001701083 | SCV003928376 | benign | not specified | 2023-04-10 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV001701083 | SCV001925591 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV001701083 | SCV001926265 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001701083 | SCV001968134 | benign | not specified | no assertion criteria provided | clinical testing |