Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000312982 | SCV000338874 | uncertain significance | not provided | 2018-07-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001081234 | SCV001092287 | likely benign | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000312982 | SCV001145986 | likely benign | not provided | 2018-11-20 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003947902 | SCV004758359 | likely benign | SYNE1-related condition | 2022-06-27 | 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). |