Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000592018 | SCV000707359 | uncertain significance | not provided | 2017-04-17 | criteria provided, single submitter | clinical testing | |
Molecular Genetics Laboratory, |
RCV001173604 | SCV001336704 | uncertain significance | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing | ||
Invitae | RCV001393026 | SCV001594676 | likely benign | Charcot-Marie-Tooth disease type 2 | 2023-12-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004024810 | SCV002732818 | likely benign | not specified | 2020-09-10 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
Prevention |
RCV003935620 | SCV004760046 | likely benign | KIF1B-related disorder | 2022-08-01 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |