ClinVar Miner

Submissions for variant NM_001008212.2(OPTN):c.964= (p.Glu322=)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001515371 SCV001723428 benign Primary open angle glaucoma; Amyotrophic lateral sclerosis type 12; Glaucoma 1, open angle, E 2024-02-01 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529143 SCV001742124 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001529143 SCV001808312 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001529143 SCV001923626 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001529143 SCV001930945 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001529143 SCV001964022 benign not specified no assertion criteria provided clinical testing

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