Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV001199112 | SCV001370107 | uncertain significance | Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome | 2019-03-24 | criteria provided, single submitter | clinical testing | This variant was classified as: Uncertain significance. The following ACMG criteria were applied in classifying this variant: PM2. |