ClinVar Miner

Submissions for variant NM_031407.7(HUWE1):c.8458A>G (p.Thr2820Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003135703 SCV003817525 uncertain significance Intellectual disability, X-linked syndromic, Turner type 2021-12-13 criteria provided, single submitter clinical testing

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