Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000224375 | SCV000281511 | likely benign | not provided | 2015-06-15 | criteria provided, single submitter | clinical testing | Converted during submission to Likely benign. |
Wong Mito Lab, |
RCV000853953 | SCV000996986 | benign | Leigh syndrome | 2019-10-17 | criteria provided, single submitter | clinical testing | The NC_012920.1:m.6261G>A (YP_003024028.1:p.Ala120Thr) variant in MTCO1 gene is interpretated to be a Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: BA1 |
Athena Diagnostics Inc | RCV000224375 | SCV001144555 | benign | not provided | 2019-04-16 | criteria provided, single submitter | clinical testing |