ClinVar Miner

Submissions for variant NM_001008212.2(OPTN):c.999-16T>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002957200 SCV003271042 likely benign Primary open angle glaucoma; Amyotrophic lateral sclerosis type 12; Glaucoma 1, open angle, E 2022-03-05 criteria provided, single submitter clinical testing

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