Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Wong Mito Lab, |
RCV000850667 | SCV000992898 | likely pathogenic | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 2019-07-12 | criteria provided, single submitter | clinical testing | The NC_012920.1:m.1624C>T variant in MT-TV gene is interpreted to be a Likely Pathogenic variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes reported in the guidelines: PS3, PP3, PP4 |
Mendelics | RCV000850667 | SCV002517734 | pathogenic | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 2022-05-04 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000010157 | SCV000030378 | pathogenic | Neonatal death | 2002-02-01 | no assertion criteria provided | literature only | |
OMIM | RCV000010158 | SCV000030379 | pathogenic | Leigh syndrome | 2002-02-01 | no assertion criteria provided | literature only | |
Gene |
RCV000010158 | SCV000188913 | not provided | Leigh syndrome | no assertion provided | literature only |