ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.1085_1096del (p.Ala362_Pro365del)

dbSNP: rs2136587632
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Cologne University RCV001533421 SCV001749315 likely pathogenic Stickler syndrome, type I, nonsyndromic ocular no assertion criteria provided clinical testing

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