Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000428239 | SCV000523666 | likely benign | not provided | 2018-04-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002065045 | SCV002402955 | benign | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2023-12-28 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003922766 | SCV004743432 | likely benign | SYNE1-related condition | 2022-12-18 | 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). |