Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001721340 | SCV000530329 | benign | not provided | 2020-11-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000477113 | SCV000559765 | likely benign | Charcot-Marie-Tooth disease axonal type 2O | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000421707 | SCV000594413 | likely benign | not specified | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002318476 | SCV000850970 | likely benign | Inborn genetic diseases | 2016-03-21 | 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. |
Prevention |
RCV003922809 | SCV004741939 | likely benign | DYNC1H1-related condition | 2022-05-06 | 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). |