Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000488225 | SCV000575502 | uncertain significance | not provided | 2016-10-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001486629 | SCV001691090 | likely benign | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2023-05-15 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003962353 | SCV004782890 | likely benign | SYNE1-related condition | 2019-08-14 | 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). |