ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.10414-13G>A

gnomAD frequency: 0.00190  dbSNP: rs17541421
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001721335 SCV000529962 benign not provided 2018-09-11 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173869 SCV001336985 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Invitae RCV002059808 SCV002410756 benign Charcot-Marie-Tooth disease axonal type 2O 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502562 SCV002812411 likely benign Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures; Charcot-Marie-Tooth disease axonal type 2O; Intellectual disability, autosomal dominant 13 2021-09-27 criteria provided, single submitter clinical testing

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