ClinVar Miner

Submissions for variant NM_001008212.2(OPTN):c.606G>A (p.Thr202=)

gnomAD frequency: 0.00038  dbSNP: rs143437860
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001572265 SCV001796873 likely benign not provided 2021-03-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002072233 SCV002373415 likely benign Primary open angle glaucoma; Amyotrophic lateral sclerosis type 12; Glaucoma 1, open angle, E 2024-11-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001572265 SCV005226932 likely benign not provided criteria provided, single submitter not provided

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