Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000871932 | SCV001013670 | likely benign | Amyotrophic lateral sclerosis type 1; Perry syndrome; Neuronopathy, distal hereditary motor, type 7B | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV001664510 | SCV001879917 | benign | not specified | 2020-11-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001692307 | SCV001910862 | benign | not provided | 2021-05-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002434126 | SCV002749781 | likely benign | Inborn genetic diseases | 2020-04-13 | 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. |
Prevention |
RCV003965748 | SCV004787557 | likely benign | DCTN1-related disorder | 2022-09-01 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Breakthrough Genomics, |
RCV001692307 | SCV005257606 | likely benign | not provided | criteria provided, single submitter | not provided |