Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000729445 | SCV000726574 | likely benign | not provided | 2020-09-25 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000729445 | SCV000857111 | uncertain significance | not provided | 2017-10-12 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000729445 | SCV002392300 | likely benign | not provided | 2024-03-16 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003905635 | SCV004721245 | likely benign | SYNE4-related disorder | 2024-06-03 | 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). |