ClinVar Miner

Submissions for variant NM_018238.4(AGK):c.*1308_*1311del

dbSNP: rs886062029
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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 RCV000280487 SCV000467085 uncertain significance Sengers syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000349405 SCV000467086 uncertain significance Developmental cataract 2016-06-14 criteria provided, single submitter clinical testing

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