Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000612542 | SCV000714986 | benign | not specified | 2017-07-13 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Labcorp Genetics |
RCV001518940 | SCV001727720 | benign | Genitopatellar syndrome | 2025-01-17 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003417976 | SCV004126819 | likely benign | not provided | 2023-05-01 | criteria provided, single submitter | clinical testing | KAT6B: BP4, BP7, BS2 |
Prevention |
RCV004537697 | SCV004745949 | benign | KAT6B-related disorder | 2019-05-21 | no assertion criteria provided | 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). |