Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Wong Mito Lab, |
RCV000853954 | SCV000996987 | uncertain significance | Leigh syndrome | 2019-10-17 | criteria provided, single submitter | clinical testing | The NC_012920.1:m.6264G>A (YP_003024028.1:p.Gly121Ter) variant in MTCO1 gene is interpretated to be a Uncertain Significance variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: no criteria |
OMIM | RCV000010305 | SCV000030530 | pathogenic | Familial colorectal cancer | 1998-11-01 | no assertion criteria provided | literature only |