ClinVar Miner

Submissions for variant NM_144772.3(NAXE):c.*22T>C

gnomAD frequency: 0.93458  dbSNP: rs1270
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001554166 SCV001775360 benign Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001694107 SCV001910733 benign not provided 2021-05-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001694107 SCV005282771 benign not provided criteria provided, single submitter not provided

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