Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000127914 | SCV000171500 | benign | not specified | 2013-07-16 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Preventiongenetics, |
RCV000127914 | SCV000306085 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV000462584 | SCV000557247 | likely benign | Brugada syndrome 5 | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000127914 | SCV000615053 | benign | not specified | 2016-08-18 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000127914 | SCV000860092 | benign | not specified | 2018-03-12 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001725994 | SCV001473652 | likely benign | not provided | 2019-11-11 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001725994 | SCV001961799 | likely benign | not provided | 2023-06-01 | criteria provided, single submitter | clinical testing | SCN1B: BP4, BP7 |
Ambry Genetics | RCV002354319 | SCV002653603 | likely benign | Cardiovascular phenotype | 2017-06-22 | 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. |