Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000676284 | SCV001039811 | benign | not provided | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Centre for Mendelian Genomics, |
RCV001196971 | SCV001367606 | benign | Mitochondrial complex 1 deficiency, nuclear type 16 | 2018-11-08 | criteria provided, single submitter | clinical testing | This variant was classified as: Benign. The following ACMG criteria were applied in classifying this variant: BS1,BS2. |
Gene |
RCV000676284 | SCV001848019 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003980300 | SCV004792366 | likely benign | NDUFAF5-related disorder | 2020-03-23 | 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). |
Mayo Clinic Laboratories, |
RCV000676284 | SCV000802040 | likely benign | not provided | 2016-02-19 | no assertion criteria provided | clinical testing | |
Natera, |
RCV001830472 | SCV002092884 | likely benign | Mitochondrial complex I deficiency | 2020-11-09 | no assertion criteria provided | clinical testing |