Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002528362 | SCV000637520 | likely benign | Catecholaminergic polymorphic ventricular tachycardia 1 | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001178171 | SCV001342547 | likely benign | Cardiomyopathy | 2019-02-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001703195 | SCV002013113 | likely benign | not provided | 2021-02-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002395357 | SCV002696172 | likely benign | Cardiovascular phenotype | 2019-05-29 | 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. |
Clinical Genetics, |
RCV001700141 | SCV001918901 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV001703195 | SCV001927888 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001703195 | SCV001953341 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001703195 | SCV001966457 | likely benign | not provided | no assertion criteria provided | clinical testing |