ClinVar Miner

Submissions for variant NM_000459.5(TEK):c.761-40C>T

gnomAD frequency: 0.51926  dbSNP: rs666478
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001636345 SCV001851440 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001838721 SCV002098559 benign Glaucoma 3, primary congenital, E 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001838720 SCV002098570 benign Multiple cutaneous and mucosal venous malformations 2021-09-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001636345 SCV005271945 benign not provided criteria provided, single submitter not provided

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