ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.13088A>C (p.Lys4363Thr)

gnomAD frequency: 0.00002  dbSNP: rs141925609
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000230711 SCV000287106 likely benign Charcot-Marie-Tooth disease axonal type 2O 2023-10-03 criteria provided, single submitter clinical testing
GeneDx RCV001705255 SCV000726104 likely benign not provided 2019-03-01 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30504930, 31981491)
Illumina Laboratory Services, Illumina RCV001112195 SCV001269836 likely benign Autosomal dominant cerebellar ataxia 2018-01-13 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Laboratory Services, Illumina RCV000230711 SCV001273129 likely benign Charcot-Marie-Tooth disease axonal type 2O 2018-01-13 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Genesis Genome Database RCV000856991 SCV000999559 uncertain significance Charcot-Marie-Tooth disease 2019-08-14 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV001291385 SCV001479859 likely pathogenic Autism spectrum disorder no assertion criteria provided research

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