ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.4547G>A (p.Gly1516Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Autoinflammatory diseases unit, CHU de Montpellier RCV004768458 SCV005381975 likely pathogenic Stickler syndrome type 2 2024-08-21 no assertion criteria provided clinical testing

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