Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000146540 | SCV000193835 | uncertain significance | Cornelia de Lange syndrome 1 | 2013-02-08 | criteria provided, single submitter | clinical testing | |
EGL Genetic Diagnostics, |
RCV000254129 | SCV000225093 | likely benign | not specified | 2016-04-27 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000254129 | SCV000315679 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Clinical Services Laboratory, |
RCV000146540 | SCV000457277 | likely benign | Cornelia de Lange syndrome 1 | 2018-01-13 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. |
Center for Pediatric Genomic Medicine, |
RCV000513777 | SCV000610860 | likely benign | not provided | 2017-05-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000719873 | SCV000850744 | benign | History of neurodevelopmental disorder | 2016-07-01 | 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 |
Invitae | RCV000146540 | SCV001016592 | likely benign | Cornelia de Lange syndrome 1 | 2019-12-31 | criteria provided, single submitter | clinical testing |