Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Wong Mito Lab, |
RCV000855397 | SCV000998447 | benign | Leigh syndrome | 2019-10-17 | criteria provided, single submitter | clinical testing | The NC_012920.1:m.15884G>A (YP_003024038.1:p.Ala380Thr) variant in MTCYB gene is interpretated to be a Benign variant based on the modified ACMG guidelines (unpublished).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: BA1 |
Department of Zoology Govt. |
RCV000133439 | SCV000188453 | probable-pathogenic | Neoplasm of ovary | no assertion criteria provided | not provided | Converted during submission to Likely pathogenic. |