ClinVar Miner

Submissions for variant NM_001382817.3(AGT):c.-30-3273G>A

gnomAD frequency: 0.58201  dbSNP: rs5051
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000262949 SCV000355408 benign Renal tubular dysgenesis 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000835696 SCV000977502 benign not provided 2018-03-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Breakthrough Genomics, Breakthrough Genomics RCV000835696 SCV005284242 benign not provided criteria provided, single submitter not provided
OMIM RCV002221221 SCV000039992 benign Hypertension, essential, susceptibility to 2010-12-24 no assertion criteria provided literature only

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