Total submissions: 15
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000079049 | SCV000110918 | benign | not specified | 2017-09-22 | criteria provided, single submitter | clinical testing | |
Preventiongenetics, |
RCV000079049 | SCV000304638 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000283218 | SCV000393832 | benign | Tay-Sachs disease | 2016-06-14 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000675467 | SCV000603953 | benign | not provided | 2023-11-29 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000675467 | SCV000889383 | benign | not provided | 2018-03-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000283218 | SCV001729139 | benign | Tay-Sachs disease | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000283218 | SCV001737374 | benign | Tay-Sachs disease | 2021-06-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000675467 | SCV001942887 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000079049 | SCV000151386 | likely benign | not specified | no assertion criteria provided | clinical testing | Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed. | |
Diagnostic Laboratory, |
RCV000283218 | SCV000733466 | benign | Tay-Sachs disease | no assertion criteria provided | clinical testing | ||
Mayo Clinic Laboratories, |
RCV000675467 | SCV000801155 | benign | not provided | 2015-10-23 | no assertion criteria provided | clinical testing | |
Clinical Genetics, |
RCV000079049 | SCV001924001 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000079049 | SCV001954950 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000079049 | SCV002038206 | benign | not specified | no assertion criteria provided | clinical testing | ||
Natera, |
RCV000283218 | SCV002085669 | benign | Tay-Sachs disease | 2017-03-29 | no assertion criteria provided | clinical testing |