Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000358843 | SCV000332735 | likely benign | not specified | 2015-07-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000634196 | SCV000755497 | benign | Jeune thoracic dystrophy | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000358843 | SCV002070176 | likely benign | not specified | 2020-03-17 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003939948 | SCV004760178 | likely benign | DYNC2H1-related condition | 2019-10-04 | 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). |