ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.12513+10T>G

gnomAD frequency: 0.00183  dbSNP: rs17512839
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000711523 SCV000529963 benign not provided 2021-10-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001084638 SCV000559804 benign Charcot-Marie-Tooth disease axonal type 2O 2025-01-30 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000711523 SCV000841901 benign not provided 2017-09-19 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre RCV001174048 SCV001337168 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488948 SCV002803760 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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