Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000417729 | SCV000510844 | uncertain significance | not provided | 2017-02-06 | criteria provided, single submitter | clinical testing | Converted during submission to Uncertain significance. |
Eurofins Ntd Llc |
RCV000417729 | SCV000863403 | uncertain significance | not provided | 2018-09-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000417729 | SCV001031873 | likely benign | not provided | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000417729 | SCV001249326 | uncertain significance | not provided | 2019-11-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000417729 | SCV001796895 | likely benign | not provided | 2021-01-20 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 29165578) |