ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.13483G>A (p.Ala4495Thr) (rs1567026040)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000767955 SCV000898660 uncertain significance Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant; Charcot-Marie-Tooth disease, axonal, type 2O; Mental retardation, autosomal dominant 13 2018-09-19 criteria provided, single submitter clinical testing DYNC1H1 NM_001376.4 exon 75 p.Ala4495Thr (c.13483G>A): This variant has not been reported in the literature and is not present in large control databases. Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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