Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000193248 | SCV000246886 | uncertain significance | not specified | 2014-12-31 | criteria provided, single submitter | clinical testing | |
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000612390 | SCV000745270 | uncertain significance | Intellectual disability, autosomal recessive 3 | 2016-06-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002314794 | SCV000848149 | likely benign | Inborn genetic diseases | 2022-08-17 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
Invitae | RCV003556244 | SCV004305203 | benign | not provided | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003937685 | SCV004750610 | likely benign | CC2D1A-related disorder | 2023-02-20 | 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). |
Diagnostic Laboratory, |
RCV000612390 | SCV000733854 | uncertain significance | Intellectual disability, autosomal recessive 3 | no assertion criteria provided | clinical testing | ||
Centre de Biologie Pathologie Génétique, |
RCV001252183 | SCV001427933 | uncertain significance | Intellectual disability | 2019-01-01 | no assertion criteria provided | clinical testing |