Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000177765 | SCV000229694 | benign | not specified | 2014-11-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000951067 | SCV001097429 | benign | not provided | 2019-08-16 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000951067 | SCV001157171 | benign | not provided | 2023-11-02 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003126567 | SCV003802695 | benign | Seckel syndrome 1 | 2023-02-08 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003126568 | SCV003802696 | benign | Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome | 2023-02-08 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003977454 | SCV004786492 | benign | ATR-related condition | 2021-06-28 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |