Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000596028 | SCV000704726 | uncertain significance | not provided | 2017-01-10 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000596028 | SCV001145992 | benign | not provided | 2019-02-25 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001510817 | SCV001717955 | benign | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2023-11-08 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004543351 | SCV004779378 | likely benign | SYNE1-related disorder | 2021-11-18 | 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). |