Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Wong Mito Lab, |
RCV000855331 | SCV000998381 | likely pathogenic | Mitochondrial myopathy with reversible cytochrome C oxidase deficiency | 2019-10-17 | criteria provided, single submitter | clinical testing | The NC_012920.1:m.15615G>A (YP_003024038.1:p.Gly290Asp) variant in MTCYB gene is interpretated to be a Likely Pathogenic variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: PM8, PM10, PP6, PP7 |
OMIM | RCV000010316 | SCV000030541 | pathogenic | Exercise intolerance | 1999-09-30 | no assertion criteria provided | literature only |