Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000543864 | SCV000655750 | benign | Luscan-Lumish syndrome | 2023-08-02 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001653924 | SCV001862224 | benign | not provided | 2020-03-10 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 27282254) |
Genome- |
RCV000543864 | SCV002554250 | benign | Luscan-Lumish syndrome | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001653924 | SCV004810986 | likely benign | not provided | 2024-03-01 | criteria provided, single submitter | clinical testing | SETD2: BP4, BS2 |
Prevention |
RCV004530570 | SCV004740748 | likely benign | SETD2-related disorder | 2019-02-20 | 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). |