Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV000508415 | SCV000604439 | likely pathogenic | not provided | 2017-11-22 | criteria provided, single submitter | clinical testing | The m.4983C>T variant introduces a premature termination codon into the MT-ND2 gene and is predicted to result in a truncated or absent protein product. This variant is also not listed in MITOMAP. Therefore, this variant is likely to be pathogenic. |