ClinVar Miner

Submissions for variant NM_001008212.2(OPTN):c.*1421T>G

gnomAD frequency: 0.22947  dbSNP: rs12415716
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000363969 SCV000483056 benign Amyotrophic Lateral Sclerosis, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000269349 SCV000483057 benign Primary open angle glaucoma 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001683461 SCV001900094 benign not provided 2021-05-14 criteria provided, single submitter clinical testing

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