ClinVar Miner

Submissions for variant NM_032436.4(CHAMP1):c.1034C>T (p.Pro345Leu)

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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 RCV003144836 SCV003831666 uncertain significance Intellectual disability, autosomal dominant 40 2021-11-19 criteria provided, single submitter clinical testing

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