ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.12355C>A (p.His4119Asn)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002638079 SCV003517295 benign Charcot-Marie-Tooth disease axonal type 2O 2025-01-06 criteria provided, single submitter clinical testing

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