ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.13359C>T (p.Asn4453=) (rs140033479)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000265844 SCV000385209 uncertain significance Intellectual Disability, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000320931 SCV000385210 uncertain significance Charcot-Marie-Tooth disease, type 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000384906 SCV000385211 uncertain significance Spinocerebellar Ataxia, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000556782 SCV000651618 likely benign not provided 2019-02-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720410 SCV000851287 likely benign History of neurodevelopmental disorder 2016-11-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign)

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