ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.13107G>A (p.Thr4369=)

gnomAD frequency: 0.00001  dbSNP: rs369577172
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503585 SCV000594430 likely benign not specified 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV001469180 SCV001673252 likely benign Charcot-Marie-Tooth disease axonal type 2O 2022-10-28 criteria provided, single submitter clinical testing
GeneDx RCV000649649 SCV001997804 likely benign not provided 2020-11-06 criteria provided, single submitter clinical testing

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