Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001698126 | SCV000526509 | benign | not provided | 2019-03-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000653153 | SCV000775029 | likely benign | Developmental and epileptic encephalopathy, 31 | 2023-10-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002318453 | SCV000850408 | likely benign | Inborn genetic diseases | 2017-01-12 | 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 |
RCV003912708 | SCV004729122 | likely benign | DNM1-related condition | 2019-05-06 | 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). |