ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.6943T>G (p.Leu2315Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV003314536 SCV004014031 likely pathogenic Intellectual disability, autosomal dominant 13 2023-06-29 criteria provided, single submitter clinical testing PS2, PM2, PP3

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