ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.3816+5G>A (rs1057524237)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000418088 SCV000534963 likely pathogenic not provided 2018-04-27 criteria provided, single submitter clinical testing The c.3816+5G>A variant in the COL11A1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant destroys the natural the splice donor site in intron 50, and is predicted to cause abnormal gene splicing resulting in an in-frame protein product with an abnormal message. The c.3816+5G>A variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.3816+5G>A as a likely pathogenic variant.
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn RCV000856778 SCV000999334 pathogenic Marshall syndrome criteria provided, single submitter clinical testing

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