ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.3427A>C (p.Lys1143Gln)

dbSNP: rs1182148061
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV000789019 SCV000928352 uncertain significance Stickler syndrome type 2 2018-05-20 criteria provided, single submitter clinical testing PM2, PP3

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