Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Wong Mito Lab, |
RCV000855297 | SCV000998347 | uncertain significance | Leigh syndrome | 2019-10-17 | criteria provided, single submitter | clinical testing | The NC_012920.1:m.15453T>C (YP_003024038.1:p.Leu236Pro) variant in MTCYB gene is interpretated to be a Uncertain Significance variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: PM10, BS1 |
Department of Zoology Govt. |
RCV000133428 | SCV000188442 | probable-pathogenic | Neoplasm of ovary | no assertion criteria provided | not provided | Converted during submission to Likely pathogenic. |