ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.10401T>A (p.Ala3467=)

gnomAD frequency: 0.00003  dbSNP: rs184264124
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000869704 SCV001011152 likely benign Charcot-Marie-Tooth disease axonal type 2O 2024-09-01 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173868 SCV001336984 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003908259 SCV004732522 likely benign DYNC1H1-related disorder 2023-03-21 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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