ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.1245+6T>A

dbSNP: rs2101944852
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV002272759 SCV002556934 uncertain significance Stickler syndrome type 2 2021-08-12 criteria provided, single submitter clinical testing

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