Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000593257 | SCV000700786 | uncertain significance | not provided | 2017-01-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000593257 | SCV001042212 | likely benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003925762 | SCV004738011 | likely benign | CCDC88C-related condition | 2019-09-17 | 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). |