ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.3590_3591insG (p.Ile1197fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV004782223 SCV005395930 likely pathogenic Stickler syndrome type 2 2024-09-04 criteria provided, single submitter clinical testing

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