ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.1006-8G>A (rs200405052)

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Total submissions: 2
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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 RCV000576493 SCV000678221 uncertain significance Ehlers-Danlos syndrome, classic type 2017-08-01 criteria provided, single submitter clinical testing COL5A2 NM_000393.3 (c.1006-8G>A): This variant has not been reported in the literature. This variant is present in 2/246126 individuals of different ethnicities in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs200405052). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. In summary, data on this variant is insufficient for disease classification. This variant is an intronic variant with no predicted change in the amino acid sequence but may have an unknown effect on splicing. Further studies are needed to understand its impact. Therefore, the clinical significance of this variant is uncertain.
GeneDx RCV000840939 SCV000982888 likely benign not provided 2018-03-26 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.

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