ClinVar Miner

Submissions for variant NM_001382817.3(AGT):c.-30-3484G>A

gnomAD frequency: 0.16122  dbSNP: rs5049
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000343947 SCV000355415 benign Renal tubular dysgenesis 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001723880 SCV001950584 benign not provided 2019-04-18 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 14597849, 12145290)
Breakthrough Genomics, Breakthrough Genomics RCV001723880 SCV005284243 benign not provided criteria provided, single submitter not provided

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