Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000194839 | SCV000247225 | uncertain significance | not specified | 2015-06-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001200093 | SCV000518335 | likely benign | not provided | 2021-04-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000649591 | SCV000771420 | likely benign | Charcot-Marie-Tooth disease axonal type 2O | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002314808 | SCV000848617 | likely benign | Inborn genetic diseases | 2016-11-17 | 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. |
Ce |
RCV001200093 | SCV001370963 | likely benign | not provided | 2023-12-01 | criteria provided, single submitter | clinical testing | DYNC1H1: BP4, BP7 |
Prevention |
RCV003977510 | SCV004795193 | likely benign | DYNC1H1-related condition | 2022-05-03 | 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). |