Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000532207 | SCV000656476 | likely benign | Developmental and epileptic encephalopathy, 31 | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001548248 | SCV001768123 | likely benign | not provided | 2019-03-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002448790 | SCV002735293 | likely benign | Inborn genetic diseases | 2018-02-14 | 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 |
RCV003935550 | SCV004752891 | likely benign | DNM1-related condition | 2019-07-04 | 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). |