Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000330879 | SCV000342653 | uncertain significance | not provided | 2016-06-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000330879 | SCV001723394 | benign | not provided | 2024-01-15 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003949920 | SCV004760987 | likely benign | CISD2-related condition | 2019-11-26 | 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). |