ClinVar Miner

Submissions for variant NM_031407.7(HUWE1):c.3727G>A (p.Val1243Met)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002634845 SCV002966339 benign not provided 2024-10-20 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003134459 SCV003811936 uncertain significance Intellectual disability, X-linked syndromic, Turner type 2021-04-15 criteria provided, single submitter clinical testing

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