Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000273657 | SCV000396634 | likely benign | Amyotrophic Lateral Sclerosis, Dominant | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000518264 | SCV000613357 | benign | not specified | 2017-02-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000873649 | SCV001015682 | benign | Amyotrophic lateral sclerosis type 6; Tremor, hereditary essential, 4 | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001528222 | SCV004139227 | benign | not provided | 2022-07-01 | criteria provided, single submitter | clinical testing | FUS: BS1, BS2 |
Prevention |
RCV003910212 | SCV004726879 | benign | FUS-related condition | 2022-05-26 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Diagnostic Laboratory, |
RCV001528222 | SCV001739591 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV001528222 | SCV001807606 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000518264 | SCV001973578 | benign | not specified | no assertion criteria provided | clinical testing |