Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000376842 | SCV000341615 | likely benign | not specified | 2016-05-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001082962 | SCV000645218 | likely benign | Severe combined immunodeficiency due to DCLRE1C deficiency | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000376842 | SCV000732685 | likely benign | not specified | 2018-02-08 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Ce |
RCV000539574 | SCV001147831 | uncertain significance | not provided | 2016-05-01 | criteria provided, single submitter | clinical testing | |
Pars Genome Lab | RCV001082962 | SCV001652828 | likely benign | Severe combined immunodeficiency due to DCLRE1C deficiency | 2021-05-18 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003920130 | SCV004731403 | likely benign | DCLRE1C-related condition | 2024-02-10 | 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). |
Genome Diagnostics Laboratory, |
RCV000539574 | SCV001929576 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000539574 | SCV001967360 | likely benign | not provided | no assertion criteria provided | clinical testing |