Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001081461 | SCV000554233 | benign | Developmental and epileptic encephalopathy, 36 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000602046 | SCV000730812 | benign | not specified | 2017-02-09 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Ambry Genetics | RCV002311774 | SCV000846516 | benign | Inborn genetic diseases | 2017-05-31 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Athena Diagnostics Inc | RCV000456721 | SCV001142982 | likely benign | not provided | 2019-04-08 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001081461 | SCV002524932 | benign | Developmental and epileptic encephalopathy, 36 | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003932717 | SCV004753138 | likely benign | ALG13-related condition | 2019-03-01 | 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). |
Genome Diagnostics Laboratory, |
RCV000456721 | SCV001930804 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000456721 | SCV001975191 | likely benign | not provided | no assertion criteria provided | clinical testing |