Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Wong Mito Lab, |
RCV000855272 | SCV000998322 | benign | Leigh syndrome | 2019-10-17 | criteria provided, single submitter | clinical testing | The NC_012920.1:m.15323G>A (YP_003024038.1:p.Ala193Thr) variant in MTCYB gene is interpretated to be a Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: BS1, BS2, BP4 |
Department of Zoology Govt. |
RCV000133419 | SCV000188433 | probable-pathogenic | Familial cancer of breast | no assertion criteria provided | not provided | Converted during submission to Likely pathogenic. |