ClinVar Miner

Submissions for variant NM_000503.6(EYA1):c.813A>G (p.Thr271=)

gnomAD frequency: 0.08547  dbSNP: rs1445398
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Total submissions: 9
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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 RCV000041395 SCV000065089 benign not specified 2011-02-02 criteria provided, single submitter clinical testing The Thr271Thr variant has been reported in dbSNP in over ten populations with mi nor allele frequencies as high as 53% (rs1445398). In addition, the variant does not result in an amino acid substitution nor is it predicted to impact splicing . Therfore, this variant is highly likely to be benign.
Preventiongenetics, part of Exact Sciences RCV000041395 SCV000316424 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000386749 SCV000474847 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.
Illumina Laboratory Services, Illumina RCV000292968 SCV000474848 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.
Invitae RCV001511173 SCV001718372 benign Melnick-Fraser syndrome 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001659982 SCV001881986 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000386749 SCV001933474 benign Otofaciocervical syndrome 1 2021-08-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000292968 SCV001933485 benign Branchiootic syndrome 1 2021-08-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001701585 SCV001933496 benign Branchiootorenal syndrome 1 2021-08-10 criteria provided, single submitter clinical testing

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