ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.2737G>A (p.Val913Ile) (rs372740994)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000502191 SCV000594438 likely benign not specified 2016-02-08 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000502191 SCV000613170 uncertain significance not specified 2017-05-03 criteria provided, single submitter clinical testing
Invitae RCV000649577 SCV000771406 likely benign Charcot-Marie-Tooth disease, axonal, type 2O 2019-12-31 criteria provided, single submitter clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001251969 SCV001427715 likely benign Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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