Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001465729 | SCV001669721 | likely benign | Genitopatellar syndrome | 2025-02-02 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001707633 | SCV001936252 | benign | not provided | 2020-07-30 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002502199 | SCV002805739 | likely benign | Genitopatellar syndrome; Blepharophimosis - intellectual disability syndrome, SBBYS type | 2021-11-02 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV001707633 | SCV005228783 | likely benign | not provided | criteria provided, single submitter | not provided | ||
Prevention |
RCV004739674 | SCV005353130 | likely benign | KAT6B-related disorder | 2024-04-25 | 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). |