Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000170636 | SCV000223188 | likely benign | not specified | 2012-02-16 | 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. |
Labcorp Genetics |
RCV000234027 | SCV000289091 | likely benign | Long QT syndrome | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000621504 | SCV000735734 | likely benign | Cardiovascular phenotype | 2018-01-29 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000170636 | SCV004223748 | likely benign | not specified | 2023-11-13 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003992205 | SCV004810941 | likely benign | not provided | 2024-08-01 | criteria provided, single submitter | clinical testing | AKAP9: BP4, BS1 |
Breakthrough Genomics, |
RCV003992205 | SCV005220983 | likely benign | not provided | criteria provided, single submitter | not provided |