ClinVar Miner

Submissions for variant NM_000093.4(COL5A1):c.3204+3G>A (rs202054108)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000619757 SCV000738591 likely benign Cardiovascular phenotype 2017-11-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Subpopulation frequency in support of benign classification
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000576402 SCV000678209 uncertain significance Ehlers-Danlos syndrome, classic type 2017-08-01 criteria provided, single submitter clinical testing COL5A1 NM_000093.3 (c.3204+3G>A): This variant has not been reported in the literature. This variant is present in 0.3% (87/24012) of African individuals in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs202054108). This variant is present in ClinVar (Variation ID:197404). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant alters the consensus splice sequence which may result in an absent or abnormal protein. However, further studies are needed to understand its impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000178422 SCV000230498 benign not specified 2014-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000178422 SCV000528260 likely benign not specified 2017-07-10 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.
PreventionGenetics RCV000178422 SCV000302191 benign not specified criteria provided, single submitter clinical testing

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