Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000383732 | SCV000339986 | likely benign | not specified | 2016-03-18 | criteria provided, single submitter | clinical testing | |
Gene |
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 | 2019-12-31 | criteria provided, single submitter | clinical testing | |
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. |