Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000013545 | SCV000807648 | pathogenic | Mitochondrial DNA depletion syndrome, myopathic form | 2017-09-01 | criteria provided, single submitter | clinical testing | This variant has been previously reported as disease-causing and was found twice our laboratory: homozygous in a 4-year-old male with developmental regression, progressive muscle weakness, hypotonia, flat feet, Gower sign, arachnoid cyst; in trans with another pathogenic variant (R183W) in a 16-year-old female with proximal muscle weakness. Heterozygotes are expected to be asymptomatic carriers. |
Invitae | RCV001386287 | SCV001586464 | pathogenic | not provided | 2021-08-12 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000013545 | SCV000033792 | pathogenic | Mitochondrial DNA depletion syndrome, myopathic form | 2012-02-28 | no assertion criteria provided | literature only |