ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.8344-30G>A

gnomAD frequency: 0.20452  dbSNP: rs2180510
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000833383 SCV000975146 benign not provided 2018-06-18 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 RCV001172922 SCV001335997 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001664467 SCV001875814 benign Charcot-Marie-Tooth disease axonal type 2O 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001664468 SCV001875815 benign Intellectual disability, autosomal dominant 13 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001664466 SCV001875816 benign Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures 2021-07-30 criteria provided, single submitter clinical testing

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