Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001670486 | SCV001891586 | benign | not provided | 2019-01-30 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002073179 | SCV002436140 | likely benign | Genitopatellar syndrome | 2024-10-21 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004536248 | SCV004727125 | likely benign | KAT6B-related disorder | 2022-03-18 | 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). |