Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000224850 | SCV000281478 | likely benign | not provided | 2015-08-12 | criteria provided, single submitter | clinical testing | Converted during submission to Likely benign. |
Wong Mito Lab, |
RCV000855026 | SCV000998073 | benign | Leigh syndrome | 2019-10-17 | criteria provided, single submitter | clinical testing | The NC_012920.1:m.14000T>A (YP_003024036.1:p.Leu555Gln) variant in MTND5 gene is interpretated to be a Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: BA1 |