Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000177352 | SCV000229201 | uncertain significance | not provided | 2015-01-06 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000177352 | SCV002398633 | likely benign | not provided | 2023-11-27 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003907596 | SCV004721011 | likely benign | RAI1-related disorder | 2022-03-17 | 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). |
Ambry Genetics | RCV004020109 | SCV004936080 | likely benign | Inborn genetic diseases | 2023-09-22 | 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. |