ClinVar Miner

Submissions for variant NM_021728.4(OTX2):c.270G>T (p.Val90=)

gnomAD frequency: 0.00003  dbSNP: rs747916036
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000353670 SCV000387203 uncertain significance Syndromic Microphthalmia, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000261151 SCV000387204 uncertain significance 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Laboratory Services, Illumina RCV000332721 SCV000387205 uncertain significance Retinal dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000389637 SCV000387206 uncertain significance OTX2-Related Syndromic Microphthalmia 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002056402 SCV002458745 likely benign Anophthalmia-microphthalmia syndrome 2023-12-27 criteria provided, single submitter clinical testing

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