Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000621074 | SCV000737875 | likely benign | Cardiovascular phenotype | 2017-01-14 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
Athena Diagnostics | RCV000712225 | SCV000842667 | likely benign | not provided | 2018-05-16 | criteria provided, single submitter | clinical testing | |
Molecular Genetics Laboratory, |
RCV001173405 | SCV001336493 | likely benign | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing | ||
Color Diagnostics, |
RCV001185528 | SCV001351765 | likely benign | Cardiomyopathy | 2018-12-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001485044 | SCV001689469 | likely benign | Charcot-Marie-Tooth disease type 2 | 2024-01-16 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004002685 | SCV004845886 | likely benign | Primary dilated cardiomyopathy | 2023-12-01 | criteria provided, single submitter | clinical testing |