ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.9264-8T>G (rs368432468)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000383732 SCV000339986 likely benign not specified 2016-03-18 criteria provided, single submitter clinical testing
GeneDx RCV000383732 SCV000512903 benign not specified 2015-06-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000462081 SCV000559783 benign Charcot-Marie-Tooth disease, axonal, type 2O 2020-11-03 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001285840 SCV001472341 uncertain significance none provided 2020-03-13 criteria provided, single submitter clinical testing The DYNC1H1 c.9264-8T>G variant (rs368432468), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 286522). This variant is found in the African population with an allele frequency of 0.46% (115/24966 alleles) in the Genome Aggregation Database. This is an intronic variant in a moderately conserved nucleotide, and computational analyses (Alamut v.2.11) predict that this variant may impact splicing weakening the nearby canonical acceptor splice site. Due to limited information, the clinical significance of the c.9264-8T>G variant is uncertain at this time.

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