ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.13718A>G (p.Asn4573Ser)

gnomAD frequency: 0.00001  dbSNP: rs571005578
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194666 SCV000247208 likely benign not specified 2015-06-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001226668 SCV001398989 benign Charcot-Marie-Tooth disease axonal type 2O 2024-11-18 criteria provided, single submitter clinical testing

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