ClinVar Miner

Submissions for variant NM_000459.5(TEK):c.3263T>C (p.Ile1088Thr)

dbSNP: rs748930375
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV001808223 SCV002058828 uncertain significance Glaucoma 3, primary congenital, E 2022-01-03 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.000004, PM2_M). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.887, PP3_P). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana RCV001808223 SCV003936899 uncertain significance Glaucoma 3, primary congenital, E no assertion criteria provided research

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