Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV001198086 | SCV001368871 | likely pathogenic | Roussy-Lévy syndrome | 2019-02-16 | criteria provided, single submitter | clinical testing | This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PM1,PM2,PP2,PP3. |
Inherited Neuropathy Consortium | RCV000790089 | SCV000929479 | uncertain significance | Charcot-Marie-Tooth disease | no assertion criteria provided | literature only |