ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.2719-9_2719-7del

dbSNP: rs566271356
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000456933 SCV000559768 likely benign Charcot-Marie-Tooth disease axonal type 2O 2024-01-08 criteria provided, single submitter clinical testing
GeneDx RCV001712436 SCV000569318 likely benign not provided 2021-05-28 criteria provided, single submitter clinical testing

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