ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg) (rs138428684)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000179651 SCV000231933 likely benign not specified 2015-02-16 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000179651 SCV000247205 benign not specified 2019-07-02 criteria provided, single submitter clinical testing
Invitae RCV001082240 SCV000287104 benign Charcot-Marie-Tooth disease, axonal, type 2O 2019-12-31 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514576 SCV000610615 likely benign not provided 2017-06-26 criteria provided, single submitter clinical testing
GeneDx RCV000179651 SCV000726067 benign not specified 2017-01-24 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.
Athena Diagnostics Inc RCV000514576 SCV000841898 benign not provided 2017-09-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717972 SCV000848833 likely benign History of neurodevelopmental disorder 2018-05-11 criteria provided, single submitter clinical testing Subpopulation frequency in support of benign classification;Other data supporting benign classification
Illumina Clinical Services Laboratory,Illumina RCV001082240 SCV001273012 likely benign Charcot-Marie-Tooth disease, axonal, type 2O 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV001115070 SCV001273013 benign Spinocerebellar Ataxia, Dominant 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173223 SCV001336304 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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