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 Charcot-Marie-Tooth disease, axonal, type 2O 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000378222 SCV000385048 benign Spinocerebellar Ataxia, Dominant 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000228589 SCV000385049 benign Charcot-Marie-Tooth disease, axonal, type 2O 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
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 Synonymous alterations with insufficient evidence to classify as benign
Molecular Genetics Laboratory,London Health Sciences Centre RCV001172911 SCV001335986 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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