ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.3816+6T>G

dbSNP: rs2101038892
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002052246 SCV002318840 uncertain significance Stickler syndrome type 2 2022-03-22 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.

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