Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000419279 | SCV000510761 | likely benign | not provided | 2017-01-11 | criteria provided, single submitter | clinical testing | Converted during submission to Likely benign. |
ARUP Laboratories, |
RCV000999808 | SCV000604444 | benign | Mitochondrial complex 1 deficiency, nuclear type 15 | 2019-05-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000419279 | SCV000729255 | benign | not provided | 2018-08-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000419279 | SCV001041372 | benign | not provided | 2023-11-28 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000419279 | SCV004699624 | benign | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | NDUFAF4: BP4, BS1, BS2 |