ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.939C>T (p.Thr313=)

gnomAD frequency: 0.00004  dbSNP: rs572233805
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000867922 SCV001009196 likely benign Charcot-Marie-Tooth disease axonal type 2O 2023-12-12 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre RCV001174012 SCV001337132 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003895281 SCV004717032 likely benign DYNC1H1-related condition 2021-08-27 criteria provided, single submitter 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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