ClinVar Miner

Submissions for variant NM_001008212.2(OPTN):c.964G>A (p.Glu322Lys)

gnomAD frequency: 0.00679  dbSNP: rs523747
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001085799 SCV001014935 benign Primary open angle glaucoma; Amyotrophic lateral sclerosis type 12; Glaucoma 1, open angle, E 2025-01-07 criteria provided, single submitter clinical testing
Athena Diagnostics RCV004997431 SCV001144802 benign not specified 2023-12-29 criteria provided, single submitter clinical testing

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