Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genome |
RCV002509005 | SCV002818353 | not provided | Pyruvate dehydrogenase E3-binding protein deficiency | no assertion provided | phenotyping only | Variant classified as Uncertain significance and reported on 10-31-2018 by Lab or GTR ID 500068. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. |