ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.4140+8A>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ RCV003330241 SCV004037268 uncertain significance Stickler syndrome type 2 2021-03-26 criteria provided, single submitter clinical testing The variant is not present in gnomAD. It was detected in an individual with symptoms possibly compatible with Stickler syndrome. Splice prediction tools are not supportive of a splicing defect. The variant is classified as VUS.

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