Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000729623 | SCV000718337 | likely benign | not provided | 2018-11-29 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000729623 | SCV000857298 | uncertain significance | not provided | 2017-10-23 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002063141 | SCV002409212 | benign | Ehlers-Danlos syndrome, spondylocheirodysplastic type | 2023-11-18 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002279402 | SCV002567025 | uncertain significance | Connective tissue disorder | 2019-03-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003953030 | SCV004773365 | likely benign | SLC39A13-related disorder | 2019-03-22 | no assertion criteria provided | 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). |