Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000314573 | SCV000338124 | uncertain significance | not provided | 2016-01-04 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001394398 | SCV001596082 | likely benign | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2023-09-28 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000314573 | SCV004160576 | likely benign | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | SYNE1: BP4, BP7 |
Prevention |
RCV004535345 | SCV004708906 | likely benign | SYNE1-related disorder | 2021-04-06 | 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). |