ClinVar Miner

Submissions for variant NM_000459.5(TEK):c.578A>G (p.Tyr193Cys)

dbSNP: rs1587545234
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000991222 SCV001142602 likely pathogenic Glaucoma 3, primary congenital, E 2019-09-13 criteria provided, single submitter clinical testing

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