Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Wong Mito Lab, |
RCV000855150 | SCV000998200 | benign | Leigh syndrome | 2019-10-17 | criteria provided, single submitter | clinical testing | The NC_012920.1:m.14766C>T (YP_003024038.1:p.Thr7Ile) variant in MTCYB gene is interpretated to be a Benign variant based on the modified ACMG guidelines (unpublished).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. |
RCV000128802 | SCV000172460 | probable-pathogenic | Familial cancer of breast | no assertion criteria provided | not provided | Converted during submission to Likely pathogenic. | |
Genomics Division, |
RCV003886377 | SCV004698205 | likely risk allele | Venous thromboembolism | no assertion criteria provided | case-control |