Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000145672 | SCV000192774 | uncertain significance | CHARGE association | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000176104 | SCV000227702 | benign | not specified | 2014-10-28 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000176104 | SCV000312974 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000353027 | SCV000474437 | benign | Hypogonadotropic hypogonadism 5 with or without anosmia | 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, |
RCV000514439 | SCV000609930 | likely benign | not provided | 2017-08-11 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000176104 | SCV000967056 | benign | not specified | 2017-08-23 | criteria provided, single submitter | clinical testing | c.4534-13T>G in intron 19 of CHD7: This variant is not expected to have clinical significance because it has been identified in 3.79% (370/9758) of African chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs114996731). |
Invitae | RCV000145672 | SCV001723821 | benign | CHARGE association | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000514439 | SCV001946035 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing |