Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000247089 | SCV000319528 | benign | Cardiovascular phenotype | 2017-10-10 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Invitae | RCV000464539 | SCV000562245 | benign | Brugada syndrome | 2023-12-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001704136 | SCV000568239 | benign | not provided | 2019-04-15 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 25527503, 21383000, 22840528, 29016797, 30847666) |
Blueprint Genetics | RCV000157129 | SCV000206852 | likely benign | Cardiac arrest | 2014-12-05 | no assertion criteria provided | clinical testing |