ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.5001C>T (p.Asn1667=) (rs117199211)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000176470 SCV000228132 likely benign not specified 2015-04-21 criteria provided, single submitter clinical testing
Invitae RCV000228589 SCV000287117 benign not provided 2019-02-25 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000346865 SCV000385047 uncertain significance Intellectual Disability, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000378222 SCV000385048 uncertain significance Spinocerebellar Ataxia, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000283723 SCV000385049 uncertain significance Charcot-Marie-Tooth disease, type 2 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000176470 SCV000613173 benign not specified 2017-07-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716740 SCV000847583 likely benign History of neurodevelopmental disorder 2016-06-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign

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