Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000388404 | SCV000378596 | likely benign | Autosomal dominant Parkinson disease 8 | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000712247 | SCV000842692 | benign | not provided | 2018-06-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000712247 | SCV001872218 | benign | not provided | 2019-02-07 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 25980689) |
Invitae | RCV000388404 | SCV002408739 | benign | Autosomal dominant Parkinson disease 8 | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000388404 | SCV002802034 | benign | Autosomal dominant Parkinson disease 8 | 2021-09-19 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003977902 | SCV004793787 | likely benign | LRRK2-related condition | 2023-12-28 | 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). |