Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000604833 | SCV000714773 | benign | not specified | 2017-02-27 | 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. |
Invitae | RCV000638762 | SCV000760310 | benign | Brugada syndrome | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002331035 | SCV002634281 | benign | Cardiovascular phenotype | 2018-12-28 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Ce |
RCV001724076 | SCV004154204 | benign | not provided | 2022-03-01 | criteria provided, single submitter | clinical testing | SCN10A: BS1, BS2 |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000604833 | SCV005184571 | benign | not specified | 2024-05-26 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000604833 | SCV001923733 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001724076 | SCV001951862 | likely benign | not provided | no assertion criteria provided | clinical testing |