Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
SIB Swiss Institute of Bioinformatics | RCV000664056 | SCV000787482 | uncertain significance | Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B | 2018-04-16 | criteria provided, single submitter | curation | This variant is interpreted as a Uncertain Significance, for Charcot-Marie-Tooth disease, axonal, type 2A2B, Autosomal Recessive inheritance. 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. PP3 => Multiple lines of computational evidence support a deleterious effect on the gene or gene product. PM3 => For recessive disorders, detected in trans with a pathogenic variant (PMID:18458227). |
Inherited Neuropathy Consortium | RCV000790032 | SCV000929422 | uncertain significance | Charcot-Marie-Tooth disease | no assertion criteria provided | literature only |