ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.519-17A>G

gnomAD frequency: 0.00005  dbSNP: rs370195127
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001174009 SCV001337129 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001873628 SCV002209347 likely benign Charcot-Marie-Tooth disease axonal type 2O 2024-12-17 criteria provided, single submitter clinical testing

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