Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000150675 | SCV000198030 | benign | not specified | 2015-01-30 | criteria provided, single submitter | clinical testing | c.1141-15T>G in intron 11 of EYA1: This variant is not expected to have clinical significance because it has been identified in 2.2% (261/11534) of Latino chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs186249248), and computational tools do not suggest an impact to splici ng. |
Illumina Laboratory Services, |
RCV000300934 | SCV000474837 | benign | Branchiootic syndrome 1 | 2018-01-12 | 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. |
Illumina Laboratory Services, |
RCV000355642 | SCV000474838 | benign | Otofaciocervical syndrome 1 | 2018-01-12 | 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. |
Gene |
RCV001564379 | SCV001787536 | likely benign | not provided | 2018-07-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002055969 | SCV002411033 | benign | Melnick-Fraser syndrome | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002483306 | SCV002795386 | benign | Branchiootic syndrome 1; Branchiootorenal syndrome 1; Otofaciocervical syndrome 1 | 2021-07-20 | criteria provided, single submitter | clinical testing |