ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.595G>A (p.Val199Ile) (rs74162061)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000116297 SCV000150215 uncertain significance not provided 2013-11-04 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000238916 SCV000296910 uncertain significance not specified 2015-07-30 criteria provided, single submitter clinical testing
Invitae RCV000116297 SCV000629956 benign not provided 2019-03-05 criteria provided, single submitter clinical testing

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