ClinVar Miner

Submissions for variant NM_025136.4(OPA3):c.231T>C (p.Ala77=) (rs3826860)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082252 SCV000114201 benign not specified 2017-09-06 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000082252 SCV000314592 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000400863 SCV000413894 benign 3-Methylglutaconic aciduria type 3 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 Clinical Services Laboratory,Illumina RCV000020908 SCV000413895 benign Optic atrophy 3 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.
GeneReviews RCV000020908 SCV000041511 benign Optic atrophy 3 2009-03-31 no assertion criteria provided curation Converted during submission to Benign.
Genetic Services Laboratory,University of Chicago RCV000082252 SCV000152140 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132683 SCV000172636 probable-non-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely benign.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000132683 SCV000802774 benign not provided 2016-02-19 no assertion criteria provided clinical testing

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