ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.5239-13C>A

gnomAD frequency: 0.00034  dbSNP: rs373351097
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698301 SCV000533295 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Invitae RCV002059992 SCV002451768 likely benign Charcot-Marie-Tooth disease axonal type 2O 2023-11-27 criteria provided, single submitter clinical testing

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