Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000415916 | SCV000493333 | likely benign | not provided | 2023-01-01 | criteria provided, single submitter | clinical testing | KCND3: PP2, BS1 |
Genetic Services Laboratory, |
RCV000172842 | SCV000595296 | likely pathogenic | Brugada syndrome 9 | 2016-04-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000552635 | SCV000640057 | likely benign | Spinocerebellar ataxia type 19/22 | 2023-10-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000618307 | SCV000738231 | likely benign | Cardiovascular phenotype | 2023-09-18 | 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. |
Genomic Research Center, |
RCV000172842 | SCV000746546 | likely pathogenic | Brugada syndrome 9 | 2017-12-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000415916 | SCV002005211 | likely benign | not provided | 2021-09-20 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 31130284, 26582918, 22284586, 30609406, 22840528, 21349352, 26016905, 29247119, 28444220, 30662450, 23963749, 30821013) |
New York Genome Center | RCV000552635 | SCV002099062 | uncertain significance | Spinocerebellar ataxia type 19/22 | 2021-04-10 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV002247580 | SCV002517229 | uncertain significance | not specified | 2022-05-04 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000172842 | SCV000223808 | pathogenic | Brugada syndrome 9 | 2011-07-01 | no assertion criteria provided | literature only | |
Genetics and Genomic Medicine Centre, |
RCV000415916 | SCV004175012 | uncertain significance | not provided | 2022-03-14 | no assertion criteria provided | clinical testing |