ClinVar Miner

Submissions for variant NM_002242.4(KCNJ13):c.458C>T (p.Thr153Ile)

dbSNP: rs863224884
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UCLA Clinical Genomics Center, UCLA RCV000197888 SCV000255394 likely pathogenic Leber congenital amaurosis 16 2012-11-20 criteria provided, single submitter clinical testing
Rui Chen Lab, Baylor College of Medicine RCV000515663 SCV000579420 pathogenic Leber congenital amaurosis 2017-05-09 no assertion criteria provided research

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