Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
SIB Swiss Institute of Bioinformatics | RCV000755715 | SCV000883189 | uncertain significance | Wilson disease | 2018-10-15 | criteria provided, single submitter | curation | This variant is interpreted as Uncertain Significance - Insufficient Evidence, for Wilson disease, autosomal recessive. The following ACMG Tag(s) were applied: PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. |