ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.3136C>T (p.Pro1046Ser)

dbSNP: rs751205887
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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 RCV000789039 SCV000928380 likely pathogenic Stickler syndrome, type I, nonsyndromic ocular 2018-10-10 criteria provided, single submitter clinical testing PM1, PM2, PP2, PP3

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