Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000369461 | SCV000339691 | uncertain significance | not provided | 2016-03-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002059196 | SCV002431833 | likely benign | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2023-10-24 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000369461 | SCV002821777 | uncertain significance | not provided | 2022-12-01 | criteria provided, single submitter | clinical testing | SYNE1: PM2, BP4, BP7 |
Prevention |
RCV003977779 | SCV004795683 | likely benign | SYNE1-related condition | 2019-03-05 | criteria provided, single submitter | 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). |