ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.962-15dup

dbSNP: rs3830914
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001174069 SCV001337189 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001662655 SCV001875797 benign Charcot-Marie-Tooth disease axonal type 2O 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001662656 SCV001875798 benign Intellectual disability, autosomal dominant 13 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001662654 SCV001875799 benign Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures 2021-07-30 criteria provided, single submitter clinical testing
GeneDx RCV001529464 SCV001882953 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Invitae RCV001662655 SCV002406206 benign Charcot-Marie-Tooth disease axonal type 2O 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000611818 SCV000730825 benign not specified 2018-03-09 flagged submission clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529464 SCV001742970 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000611818 SCV001922217 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000611818 SCV001971331 benign not specified no assertion criteria provided clinical testing

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