ClinVar Miner

Submissions for variant NM_000503.6(EYA1):c.1141-15T>G

gnomAD frequency: 0.00103  dbSNP: rs186249248
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized 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, Illumina 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, Illumina 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.
GeneDx 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, Fulgent Genetics RCV002483306 SCV002795386 benign Branchiootic syndrome 1; Branchiootorenal syndrome 1; Otofaciocervical syndrome 1 2021-07-20 criteria provided, single submitter clinical testing

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