Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Lupski Lab, |
RCV000454329 | SCV000537989 | likely pathogenic | Abnormal brain morphology | criteria provided, single submitter | research | ||
Baylor Genetics | RCV000679867 | SCV000807236 | pathogenic | Hereditary spastic paraplegia 55 | 2017-09-01 | criteria provided, single submitter | clinical testing | This mutation has been previously reported as disease-causing and was found once in our laboratory in a homozygous state in a 15-year-old male with hypertonia, worsening gait abnormalities, trembling hands, joint contractures, optic atrophy, CMT-like gait and foot problems, increased reflexes. |
Institute of Human Genetics, |
RCV000000070 | SCV001934379 | likely pathogenic | Combined oxidative phosphorylation defect type 7 | 2021-01-04 | criteria provided, single submitter | clinical testing | This variant was identified as homozygous. |
OMIM | RCV000000070 | SCV000020213 | pathogenic | Combined oxidative phosphorylation defect type 7 | 2010-07-09 | no assertion criteria provided | literature only | |
NIHR Bioresource Rare Diseases, |
RCV001003606 | SCV001162000 | likely pathogenic | Epileptic encephalopathy | no assertion criteria provided | research |