ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.791G>A (p.Arg264Gln) (rs713993043)

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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 RCV000193618 SCV000247224 uncertain significance not specified 2015-06-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726892 SCV000703933 uncertain significance not provided 2018-05-01 criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV000789731 SCV000929108 uncertain significance Autosomal dominant distal hereditary motor neuropathy no assertion criteria provided literature only

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