Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000541804 | SCV000660152 | likely benign | Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001584365 | SCV001820858 | likely benign | not provided | 2021-03-18 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 27393345) |
Prevention |
RCV003915657 | SCV004736036 | likely benign | SYNJ1-related disorder | 2023-11-16 | 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, |
RCV001584365 | SCV005206194 | likely benign | not provided | criteria provided, single submitter | not provided |