Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000781476 | SCV000919539 | likely benign | not specified | 2019-08-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001423289 | SCV001625864 | likely benign | not provided | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002462132 | SCV002756249 | likely benign | Inborn genetic diseases | 2022-06-12 | 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 |
RCV003908086 | SCV004719296 | likely benign | ELP1-related condition | 2019-06-10 | 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). |