Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000081693 | SCV000113624 | benign | not specified | 2012-08-14 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000081693 | SCV000312303 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Clinical Services Laboratory, |
RCV000335767 | SCV000477846 | likely benign | Ataxia with Oculomotor Apraxia | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000398565 | SCV000477847 | likely benign | Amyotrophic Lateral Sclerosis, Dominant | 2016-06-14 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000755629 | SCV000605092 | benign | not provided | 2017-05-02 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000576443 | SCV000677476 | benign | Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia autosomal recessive 1 | 2017-04-11 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000081693 | SCV000152710 | 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. |