Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000273420 | SCV000341132 | benign | not specified | 2016-05-18 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000273420 | SCV000594497 | benign | not specified | 2015-12-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003765650 | SCV000640924 | benign | Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 | 2023-08-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001723874 | SCV001950677 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003910000 | SCV004718567 | benign | EFHC1-related condition | 2020-01-06 | 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). |