ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.13764G>A (p.Thr4588=) (rs35079638)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000719463 SCV000850330 likely benign History of neurodevelopmental disorder 2016-08-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000334854 SCV000340913 likely benign not specified 2016-04-29 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000330302 SCV000385233 uncertain significance Spinocerebellar Ataxia, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000375545 SCV000385234 uncertain significance Intellectual Disability, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000281122 SCV000385235 uncertain significance Charcot-Marie-Tooth disease, type 2 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000469605 SCV000559807 benign Charcot-Marie-Tooth disease, axonal, type 2O 2017-11-22 criteria provided, single submitter clinical testing

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