Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000515024 | SCV000610722 | likely benign | not provided | 2017-02-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000515024 | SCV001001560 | benign | not provided | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002524994 | SCV003552263 | benign | Inborn genetic diseases | 2022-06-16 | criteria provided, single submitter | clinical testing | This alteration is classified as 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 |
RCV003915438 | SCV004743485 | benign | TAF1-related condition | 2021-01-05 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |