Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
SIB Swiss Institute of Bioinformatics | RCV000240513 | SCV000787447 | likely pathogenic | Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B | 2018-04-16 | criteria provided, single submitter | curation | This variant is interpreted as a Likely Pathogenic, for Charcot-Marie-Tooth disease, axonal, type 2A2B, Autosomal Recessive inheritance. The following ACMG Tag(s) were applied: PP3 => Multiple lines of computational evidence support a deleterious effect on the gene or gene product. PP1 => Cosegregation with disease in multiple affected family members in a gene definitively known to cause the disease (PMID:21715711). PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PS4-Moderate => PS4 downgraded in strength to Moderate (PMID:16835246, 21715711, 18458227). |
Molecular Genetics Laboratory, |
RCV000857102 | SCV001336794 | likely pathogenic | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing | ||
Centre for Mendelian Genomics, |
RCV001198485 | SCV001369432 | likely pathogenic | Hereditary motor and sensory neuropathy with optic atrophy | 2019-06-20 | criteria provided, single submitter | clinical testing | This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PS1,PM1,PM2,PP3. |
OMIM | RCV000023716 | SCV000045007 | pathogenic | Charcot-Marie-Tooth disease, type 2A2A | 2011-07-12 | no assertion criteria provided | literature only | |
OMIM | RCV000240513 | SCV000298224 | pathogenic | Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B | 2011-07-12 | no assertion criteria provided | literature only | |
Institute of Human Genetics, |
RCV000240513 | SCV000787795 | pathogenic | Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B | 2018-04-25 | no assertion criteria provided | clinical testing | |
Genesis Genome Database | RCV000857102 | SCV000999676 | uncertain significance | Charcot-Marie-Tooth disease | 2019-08-14 | no assertion criteria provided | research |