ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.9209T>C (p.Ile3070Thr) (rs183589498)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000938878 SCV001084704 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000132637 SCV001326600 uncertain significance Retinitis pigmentosa 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132637 SCV000172588 pathogenic Retinitis pigmentosa no assertion criteria provided not provided Converted during submission to Pathogenic.

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