ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.4074+11A>T

gnomAD frequency: 0.00001  dbSNP: rs368040742
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000421995 SCV000526210 likely benign not specified 2016-04-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Molecular Genetics Laboratory, London Health Sciences Centre RCV001172861 SCV001335934 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002058977 SCV002391877 likely benign Charcot-Marie-Tooth disease axonal type 2O 2024-12-02 criteria provided, single submitter clinical testing

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