Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000761730 | SCV000891915 | likely benign | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing | KAT6B: BS2 |
Labcorp Genetics |
RCV001341945 | SCV001535842 | benign | Genitopatellar syndrome | 2024-12-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000761730 | SCV001819473 | likely benign | not provided | 2020-03-19 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004535891 | SCV004734132 | likely benign | KAT6B-related disorder | 2022-08-10 | 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). |