ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.2539-10C>A

gnomAD frequency: 0.00001  dbSNP: rs1372571783
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002538352 SCV003236099 likely benign Charcot-Marie-Tooth disease axonal type 2O 2023-07-07 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Wuerzburg RCV000850301 SCV000992476 uncertain significance Polyneuropathy no assertion criteria provided clinical testing

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