ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.12834C>T (p.Phe4278=) (rs201126154)

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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 RCV000501493 SCV000594429 likely benign not specified 2016-04-12 criteria provided, single submitter clinical testing
GeneDx RCV000501493 SCV000726150 likely benign not specified 2018-01-04 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000718086 SCV000848948 likely benign History of neurodevelopmental disorder 2017-02-07 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign;In silico models in agreement (benign)

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