Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000242863 | SCV000310863 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Laboratory for Molecular Medicine, |
RCV000242863 | SCV000538553 | likely benign | not specified | 2016-03-29 | criteria provided, single submitter | clinical testing | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Variant has been reported in unknown number of patients with XL congenital stationary night blindness (Weleber 2002 - from abstract, full text not available). MAF 0.6%, 6 hem in ExAC. Status PASS, but relatively poorly covered (51/9104 Eur chr). |
Eurofins Ntd Llc |
RCV000726719 | SCV000702415 | uncertain significance | not provided | 2016-11-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000726719 | SCV001024791 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000990822 | SCV001141867 | benign | Congenital stationary night blindness 2A | 2023-08-22 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000242863 | SCV001917905 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000242863 | SCV001953414 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000726719 | SCV001973917 | likely benign | not provided | no assertion criteria provided | clinical testing |