Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000680045 | SCV000807484 | uncertain significance | Mitochondrial complex I deficiency | 2017-09-01 | criteria provided, single submitter | clinical testing | Likely pathogenicity based on finding it once in our laboratory in trans with another missense variant in a 9-month-old female with developmental delay, hypotonia, leukoencephalopathy |