ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.4384G>T (p.Gly1462Cys)

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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 RCV004768460 SCV005381983 likely pathogenic Stickler syndrome type 2 2024-10-01 no assertion criteria provided clinical testing

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