ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.898-186del

dbSNP: rs2101962817
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001752801 SCV001997759 uncertain significance not provided 2019-12-30 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); Canonical splice site variant predicted to result in an in-frame deletion of exon 6; Has not been previously published as pathogenic or benign to our knowledge
Miami Human Genetics, University Of Miami Miller School Of Medicine RCV004552009 SCV005043119 likely pathogenic Stickler syndrome type 2 2024-05-09 criteria provided, single submitter research

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