Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000680061 | SCV000807501 | uncertain significance | Pyruvate dehydrogenase E1-alpha deficiency | 2017-09-01 | criteria provided, single submitter | clinical testing | This variant has been previously reported and was found once in our laboratory mosaic and de novo in a 12-year-old male with no speech, neuropathy, acquired torsion dystonia, encephalopathy, scoliosis, microcephaly, vision loss, small optic nerves |