Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000598969 | SCV000710105 | likely benign | not provided | 2022-10-28 | criteria provided, single submitter | clinical testing | See Variant Classification Assertion Criteria. |
Labcorp Genetics |
RCV001034428 | SCV001197778 | benign | Genitopatellar syndrome | 2025-01-29 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004530727 | SCV004752980 | likely benign | KAT6B-related disorder | 2020-01-30 | 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). |