Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000116748 | SCV000167746 | benign | not specified | 2013-10-22 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Center for Pediatric Genomic Medicine, |
RCV000223968 | SCV000280830 | likely benign | not provided | 2015-04-13 | criteria provided, single submitter | clinical testing | Converted during submission to Likely benign. |
Invitae | RCV000229400 | SCV000285809 | benign | Neuronal ceroid lipofuscinosis | 2018-01-03 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000274494 | SCV000396319 | uncertain significance | Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000717295 | SCV000848144 | benign | Seizures | 2016-06-24 | criteria provided, single submitter | clinical testing | Lines of evidence used in support of classification: General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance |
Genetic Services Laboratory, |
RCV000116748 | SCV000150722 | 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. | |
Mayo Clinic Genetic Testing Laboratories, |
RCV000223968 | SCV000801706 | likely benign | not provided | 2017-02-27 | no assertion criteria provided | clinical testing |