ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.10291A>G (p.Asn3431Asp)

gnomAD frequency: 0.00001  dbSNP: rs1315999225
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001479075 SCV001683367 likely benign Charcot-Marie-Tooth disease axonal type 2O 2018-03-25 criteria provided, single submitter clinical testing

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