Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000224901 | SCV000281435 | likely benign | not provided | 2015-10-08 | criteria provided, single submitter | clinical testing | Converted during submission to Likely benign. |
Wong Mito Lab, |
RCV000854215 | SCV000997248 | benign | Leigh syndrome | 2019-10-17 | criteria provided, single submitter | clinical testing | The NC_012920.1:m.8519G>A (YP_003024030.1:p.Glu52Lys) variant in MTATP8 gene is interpretated to be a Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: BS1, BS2 |