Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001085165 | SCV000640895 | benign | Nemaline myopathy 2 | 2024-11-29 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000712398 | SCV000842879 | likely benign | not provided | 2018-06-11 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004553219 | SCV004722379 | likely benign | NEB-related disorder | 2020-01-21 | 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). |