Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000337016 | SCV000343034 | uncertain significance | not provided | 2016-06-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000337016 | SCV001117895 | benign | not provided | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003940061 | SCV004747663 | likely benign | HES7-related condition | 2023-12-11 | 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). |