ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.962-15dup (rs3830914)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000611818 SCV000730825 benign not specified 2018-03-09 criteria provided, single submitter 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.
Molecular Genetics Laboratory,London Health Sciences Centre RCV001174069 SCV001337189 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001662655 SCV001875797 benign Charcot-Marie-Tooth disease, axonal, type 2O 2021-07-30 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001662656 SCV001875798 benign Mental retardation, autosomal dominant 13 2021-07-30 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001662654 SCV001875799 benign Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant 2021-07-30 criteria provided, single submitter clinical testing
GeneDx RCV001529464 SCV001882953 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
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

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