ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.239A>G (p.Glu80Gly) (rs751092252)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000718380 SCV000849242 uncertain significance History of neurodevelopmental disorder 2017-03-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Invitae RCV000553521 SCV000651632 benign Charcot-Marie-Tooth disease, axonal, type 2O 2017-06-05 criteria provided, single submitter clinical testing

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