Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000236258 | SCV000293878 | likely benign | not provided | 2019-05-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000649564 | SCV000771393 | likely benign | Charcot-Marie-Tooth disease axonal type 2O | 2023-10-17 | criteria provided, single submitter | clinical testing | |
Center for Genomics, |
RCV002057258 | SCV002496104 | uncertain significance | Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures; Charcot-Marie-Tooth disease axonal type 2O; Intellectual disability, autosomal dominant 13 | 2022-02-11 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature but is present in 0.07% (8/10370) of Ashkenazi Jewish alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/14 102467986 G A?dataset=gnomad_r2_1). This variant is present in ClinVar (Variation ID:246361). Evolutionary conservation suggests that this variant may impact the protein; computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |
Ambry Genetics | RCV002338774 | SCV002639029 | likely benign | Inborn genetic diseases | 2022-04-20 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |