ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.11862C>T (p.Asp3954=)

gnomAD frequency: 0.00021  dbSNP: rs140543419
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001712619 SCV000716026 likely benign not provided 2020-07-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000865730 SCV001006744 likely benign Charcot-Marie-Tooth disease axonal type 2O 2024-12-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003915768 SCV004727749 likely benign DYNC1H1-related disorder 2023-12-21 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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