Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Wong Mito Lab, |
RCV000855308 | SCV000998358 | uncertain significance | Leigh syndrome | 2019-10-17 | criteria provided, single submitter | clinical testing | The NC_012920.1:m.15498G>A (YP_003024038.1:p.Gly251Asp) variant in MTCYB gene is interpretated to be a Uncertain Significance variant based on the modified ACMG guidelines (unpublished).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: PM10, PP4, PP6, BS1, BP5 |
OMIM | RCV000010322 | SCV000030547 | pathogenic | Histiocytoid cardiomyopathy | 2000-09-01 | no assertion criteria provided | literature only |