Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000429185 | SCV000510682 | likely benign | not provided | 2016-09-23 | criteria provided, single submitter | clinical testing | Converted during submission to Likely benign. |
Invitae | RCV000362161 | SCV000636603 | benign | Kleefstra syndrome 1 | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000718170 | SCV000849032 | benign | History of neurodevelopmental disorder | 2016-10-13 | criteria provided, single submitter | clinical testing | General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance |
Genetic Services Laboratory, |
RCV000116963 | SCV000151079 | 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. |