Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000731376 | SCV000859186 | uncertain significance | not provided | 2018-01-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003768206 | SCV004583488 | likely benign | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2022-11-10 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003938110 | SCV004752278 | likely benign | SYNE1-related condition | 2019-06-27 | 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). |