ClinVar Miner

Submissions for variant NM_018238.4(AGK):c.*463_*466dup

dbSNP: rs143849281
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000342436 SCV000467063 likely benign Sengers syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000376564 SCV000467064 likely benign Developmental cataract 2016-06-14 criteria provided, single submitter clinical testing

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