Total submissions: 14
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000118229 | SCV000312143 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000270430 | SCV000383311 | benign | Charlevoix-Saguenay spastic ataxia | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000270430 | SCV000745004 | benign | Charlevoix-Saguenay spastic ataxia | 2015-09-21 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000118229 | SCV001475434 | benign | not specified | 2019-09-20 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001509973 | SCV001716894 | benign | Spastic paraplegia | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000270430 | SCV001750102 | benign | Charlevoix-Saguenay spastic ataxia | 2021-07-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000676352 | SCV001869867 | benign | not provided | 2018-07-05 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV001847717 | SCV002104955 | benign | Hereditary spastic paraplegia | 2016-12-12 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV000676352 | SCV005230844 | benign | not provided | criteria provided, single submitter | not provided | ||
Genetic Services Laboratory, |
RCV000118229 | SCV000152588 | 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, |
RCV000270430 | SCV000733201 | benign | Charlevoix-Saguenay spastic ataxia | no assertion criteria provided | clinical testing | ||
Mayo Clinic Laboratories, |
RCV000676352 | SCV000802126 | benign | not provided | 2016-02-19 | no assertion criteria provided | clinical testing | |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000118229 | SCV001957076 | benign | not specified | no assertion criteria provided | clinical testing | ||
Natera, |
RCV000270430 | SCV002086177 | benign | Charlevoix-Saguenay spastic ataxia | 2019-11-16 | no assertion criteria provided | clinical testing |