ClinVar Miner

Submissions for variant NM_002242.4(KCNJ13):c.*1742dup (rs746052279)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000306471 SCV000428571 uncertain significance Leber congenital amaurosis 2016-06-14 criteria provided, single submitter clinical testing

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