ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.10280A>C (p.Gln3427Pro)

dbSNP: rs1555411394
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München RCV000578240 SCV000680194 likely pathogenic Intellectual disability, autosomal dominant 13 2017-11-16 criteria provided, single submitter clinical testing

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