ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.3270_3273delinsCAGCAAGGAGACAAGGAGACAGAG (p.Glu1090fs)

dbSNP: rs2136521006
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DBGen Ocular Genomics RCV001526714 SCV001737137 pathogenic Stickler syndrome type 1 2021-05-21 criteria provided, single submitter clinical testing

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