ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.2160C>T (p.Ile720=) (rs763236829)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000716176 SCV000847013 likely benign History of neurodevelopmental disorder 2016-04-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),Synonymous alterations with insufficient evidence to classify as benign
GeneDx RCV000441175 SCV000524022 likely benign not specified 2016-02-08 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.
Invitae RCV000532580 SCV000651630 likely benign Charcot-Marie-Tooth disease, axonal, type 2O 2017-08-28 criteria provided, single submitter clinical testing

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