Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000124059 | SCV000167468 | benign | not specified | 2013-12-17 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Center for Pediatric Genomic Medicine, |
RCV000443399 | SCV000511728 | likely benign | not provided | 2016-07-14 | criteria provided, single submitter | clinical testing | Converted during submission to Likely benign. |
Invitae | RCV000443399 | SCV001094547 | benign | not provided | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000988097 | SCV001137679 | likely benign | Mitochondrial complex 1 deficiency, nuclear type 17 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000443399 | SCV001500517 | likely benign | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | NDUFAF6: BP4, BS2 |
Fulgent Genetics, |
RCV002492452 | SCV002795777 | likely benign | Mitochondrial complex 1 deficiency, nuclear type 17; Fanconi renotubular syndrome 5 | 2022-01-17 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000443399 | SCV000802676 | likely benign | not provided | 2018-03-19 | no assertion criteria provided | clinical testing |