Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Wong Mito Lab, |
RCV000855200 | SCV000998250 | uncertain significance | Leigh syndrome | 2019-10-17 | criteria provided, single submitter | clinical testing | The NC_012920.1:m.14985G>A (YP_003024038.1:p.Arg80His) variant in MTCYB gene is interpretated to be a Uncertain Significance variant based on the modified ACMG guidelines (unpublished).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: PP6, PP7 |
OMIM | RCV000010314 | SCV000030539 | pathogenic | Familial colorectal cancer | 1998-11-01 | no assertion criteria provided | literature only |