ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.4053G>A (p.Trp1351Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV003123316 SCV003799119 likely pathogenic Intellectual disability, autosomal dominant 13 2022-10-14 criteria provided, single submitter clinical testing PVS1, PM2

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