Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000117185 | SCV000151349 | benign | not specified | 2015-09-24 | criteria provided, single submitter | clinical testing | |
EGL Genetic Diagnostics, |
RCV000117185 | SCV000226046 | benign | not specified | 2017-12-06 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000117185 | SCV000241225 | benign | not specified | 2014-06-09 | criteria provided, single submitter | clinical testing | The variant is found in CHILD-EPI,EPILEPSY,INFANT-EPI panel(s). |
Invitae | RCV000230705 | SCV000285632 | benign | Epilepsy, focal, with speech disorder and with or without mental retardation | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000117185 | SCV000305563 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Clinical Services Laboratory, |
RCV000230705 | SCV000400150 | benign | Epilepsy, focal, with speech disorder and with or without mental retardation | 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
Center for Pediatric Genomic Medicine, |
RCV000419597 | SCV000510655 | likely benign | not provided | 2017-02-06 | criteria provided, single submitter | clinical testing | Converted during submission to Likely benign. |
Ambry Genetics | RCV000715474 | SCV000846303 | likely benign | History of neurodevelopmental disorder | 2018-06-04 | criteria provided, single submitter | clinical testing | Co-occurence with a mutation in another gene that clearly explains a proband's phenotype;No disease association in small case-control study |