Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000433790 | SCV000511086 | uncertain significance | not provided | 2016-12-02 | criteria provided, single submitter | clinical testing | Converted during submission to Uncertain significance. |
Labcorp Genetics |
RCV002058877 | SCV002342241 | benign | Genitopatellar syndrome | 2024-09-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004022267 | SCV004891137 | likely benign | Inborn genetic diseases | 2023-12-20 | 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. |
Prevention |
RCV004739718 | SCV005352695 | likely benign | KAT6B-related disorder | 2024-05-23 | 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). |