Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000116299 | SCV000303913 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Athena Diagnostics | RCV000116299 | SCV000612305 | benign | not specified | 2017-07-26 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001273732 | SCV001720463 | benign | Polyglandular autoimmune syndrome, type 1 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001273732 | SCV001761842 | benign | Polyglandular autoimmune syndrome, type 1 | 2021-07-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001711377 | SCV001944366 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Unidad de Genómica Garrahan, |
RCV000116299 | SCV004102269 | benign | not specified | 2023-11-12 | criteria provided, single submitter | clinical testing | This variant is classified as Benign based on local population frequency. This variant was detected in 41% of patients studied by a panel of primary immunodeficiencies. Number of patients: 39. Only high quality variants are reported. |
Breakthrough Genomics, |
RCV001711377 | SCV005278177 | benign | not provided | criteria provided, single submitter | not provided | ||
Genetic Services Laboratory, |
RCV000116299 | SCV000150217 | 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. | |
Natera, |
RCV001273732 | SCV001457185 | benign | Polyglandular autoimmune syndrome, type 1 | 2020-09-16 | no assertion criteria provided | clinical testing | |
Diagnostic Laboratory, |
RCV000116299 | SCV001744436 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000116299 | SCV001929392 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000116299 | SCV001955173 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome |
RCV001711377 | SCV002074572 | not provided | not provided | no assertion provided | phenotyping only | Variant interpreted as Benign and reported on 04-27-2020 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. This variant was reported in an individual referred for clinical diagnostic genetic testing. |