ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.2721T>C (p.Ile907=) (rs114021657)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000716653 SCV000847495 benign History of neurodevelopmental disorder 2016-03-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Athena Diagnostics Inc RCV000711532 SCV000841910 benign not provided 2017-11-14 criteria provided, single submitter clinical testing
GeneDx RCV000610942 SCV000731154 likely benign not specified 2018-01-31 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.
Illumina Clinical Services Laboratory,Illumina RCV000281945 SCV000385023 uncertain significance Charcot-Marie-Tooth disease, type 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000318317 SCV000385024 uncertain significance Intellectual Disability, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000386743 SCV000385025 uncertain significance Spinocerebellar Ataxia, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000470513 SCV000559770 benign Charcot-Marie-Tooth disease, axonal, type 2O 2017-10-23 criteria provided, single submitter clinical testing

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