ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.1630-3T>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004771724 SCV005382433 uncertain significance Stickler syndrome type 2 2023-05-20 criteria provided, single submitter clinical testing The observed splice region / intron variant c.1630-3T>C in COL11A1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1630-3T>C variant is absent in gnomAD Exomes. This splice region variant in intron 14 affects the position three nucleotides upstream of exon 15. For these reasons, this variant has been classified as Uncertain Significance.

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