ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.6324C>A (p.Ile2108=)

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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 RCV003642785 SCV004538573 benign Charcot-Marie-Tooth disease axonal type 2O 2024-12-03 criteria provided, single submitter clinical testing

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