Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000729361 | SCV000857016 | uncertain significance | not provided | 2017-09-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001432811 | SCV001635590 | likely benign | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2018-05-12 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003938103 | SCV004756965 | likely benign | SYNE1-related condition | 2019-04-16 | 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). |