ClinVar Miner

Submissions for variant NM_017882.3(CLN6):c.407G>A (p.Arg136His) (rs769701646)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000454168 SCV000537961 likely pathogenic Abnormality of brain morphology criteria provided, single submitter research
Genetic Services Laboratory, University of Chicago RCV000499595 SCV000594156 uncertain significance not specified 2015-10-29 criteria provided, single submitter clinical testing

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