Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV001198186 | SCV001369056 | uncertain significance | Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome | 2019-07-23 | criteria provided, single submitter | clinical testing | This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2. |
Al Jalila Children's Genomics Center, |
RCV001732070 | SCV001984565 | uncertain significance | Autosomal dominant nonsyndromic hearing loss 4A | 2020-02-11 | criteria provided, single submitter | clinical testing |