Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Wong Mito Lab, |
RCV000851131 | SCV000993365 | benign | MELAS syndrome | 2019-07-12 | criteria provided, single submitter | clinical testing | The NC_012920.1:m.15927G>A variant in MT-TT gene is interpreted to be a Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes reported in the guidelines: BS1, BS2, BP4 |
Department of Zoology Govt. |
RCV000133441 | SCV000188455 | probable-pathogenic | Familial cancer of breast | no assertion criteria provided | not provided | Converted during submission to Likely pathogenic. |