Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000724620 | SCV000226882 | uncertain significance | not provided | 2016-06-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000724620 | SCV000329180 | likely benign | not provided | 2022-11-04 | criteria provided, single submitter | clinical testing | See Variant Classification Assertion Criteria. |
Invitae | RCV000143871 | SCV000562903 | likely benign | Long QT syndrome | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002312957 | SCV000849280 | likely benign | Cardiovascular phenotype | 2018-01-22 | 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. |
Mendelics | RCV000988768 | SCV001138625 | benign | Timothy syndrome | 2023-08-22 | criteria provided, single submitter | clinical testing | |
Centre for Mendelian Genomics, |
RCV000988768 | SCV001368995 | uncertain significance | Timothy syndrome | 2019-08-14 | criteria provided, single submitter | clinical testing | This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: BP6. |
Ce |
RCV000724620 | SCV004129716 | benign | not provided | 2022-10-01 | criteria provided, single submitter | clinical testing | CACNA1C: BS1, BS2 |
Blueprint Genetics | RCV000143871 | SCV000188739 | uncertain significance | Long QT syndrome | 2013-11-28 | no assertion criteria provided | clinical testing |