Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000117094 | SCV000151237 | benign | not specified | 2019-06-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002313882 | SCV000848182 | likely benign | Inborn genetic diseases | 2017-06-19 | 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. |
Labcorp Genetics |
RCV000899617 | SCV001043897 | likely benign | not provided | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000899617 | SCV001892381 | benign | not provided | 2020-11-05 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 19352412, 20848658, 20950788, 26647308) |
Ce |
RCV000899617 | SCV002544819 | likely benign | not provided | 2024-06-01 | criteria provided, single submitter | clinical testing | FOXP1: BS1 |
Prevention |
RCV003975021 | SCV004795847 | likely benign | FOXP1-related disorder | 2019-06-27 | no assertion criteria provided | 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). |