ClinVar Miner

Submissions for variant NM_021728.4(OTX2):c.459C>T (p.Ser153=)

gnomAD frequency: 0.00961  dbSNP: rs34537598
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000278112 SCV000387187 benign Pituitary hormone deficiency, combined, 6 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 RCV000316907 SCV000387188 benign Syndromic microphthalmia type 5 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 RCV000387640 SCV000387189 likely benign OTX2-Related Syndromic Microphthalmia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000295747 SCV000387190 likely benign Syndromic Microphthalmia, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000654894 SCV000776798 benign Anophthalmia-microphthalmia syndrome 2024-01-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494983 SCV002797509 likely benign Syndromic microphthalmia type 5; Pituitary hormone deficiency, combined, 6 2021-10-25 criteria provided, single submitter clinical testing

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