ClinVar Miner

Submissions for variant NM_000503.6(EYA1):c.840C>A (p.Ile280=)

gnomAD frequency: 0.00286  dbSNP: rs55972891
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Total submissions: 10
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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 RCV000150676 SCV000198032 benign not specified 2012-05-07 criteria provided, single submitter clinical testing "Ile280Ile in Exon 09 of EYA1: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 0.5% (32/7020) of Eur opean American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs55972891)."
Eurofins NTD LLC (GA) RCV000150676 SCV000344372 benign not specified 2016-08-30 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000291346 SCV000474845 benign Otofaciocervical 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 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 RCV000346226 SCV000474846 benign Branchiootic 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000991975 SCV000724162 likely benign not provided 2021-04-28 criteria provided, single submitter clinical testing
Invitae RCV000991975 SCV000755447 benign not provided 2018-08-05 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000991975 SCV001143890 benign not provided 2018-11-27 criteria provided, single submitter clinical testing
Invitae RCV002055970 SCV002340695 benign Melnick-Fraser syndrome 2021-11-22 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000991975 SCV001930741 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000991975 SCV001966636 likely benign not provided no assertion criteria provided clinical testing

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