ClinVar Miner

Submissions for variant NM_000459.5(TEK):c.2209+17A>G

gnomAD frequency: 0.47788  dbSNP: rs638203
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001675941 SCV001892631 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001838637 SCV002098625 benign Glaucoma 3, primary congenital, E 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000604065 SCV002098636 benign Multiple cutaneous and mucosal venous malformations 2021-09-10 criteria provided, single submitter clinical testing
Invitae RCV001675941 SCV002404533 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000604065 SCV000734689 benign Multiple cutaneous and mucosal venous malformations no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001700257 SCV001919761 benign not specified no assertion criteria provided clinical testing

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