Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000224068 | SCV000281194 | likely benign | not provided | 2015-08-12 | criteria provided, single submitter | clinical testing | Converted during submission to Likely benign. |
Wong Mito Lab, |
RCV000854597 | SCV000997635 | benign | Leigh syndrome | 2019-10-17 | criteria provided, single submitter | clinical testing | The NC_012920.1:m.9861T>C (YP_003024032.1:p.Phe219Leu) variant in MTCO3 gene is interpretated to be a Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: BS1, BS2 |