ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.4171T>C (p.Tyr1391His)

dbSNP: rs2136505595
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002249377 SCV002518742 pathogenic Stickler syndrome type 1 2022-05-04 criteria provided, single submitter clinical testing

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