Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000178587 | SCV000230699 | uncertain significance | not provided | 2015-01-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001807114 | SCV001017175 | likely benign | Cornelia de Lange syndrome 1 | 2023-08-17 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001807114 | SCV002054208 | likely benign | Cornelia de Lange syndrome 1 | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002399636 | SCV002669253 | likely benign | Inborn genetic diseases | 2017-07-21 | 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 |
RCV003917665 | SCV004727870 | likely benign | NIPBL-related condition | 2022-12-12 | 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). |