ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.2549G>A (p.Gly850Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals RCV005227163 SCV005865773 likely pathogenic Stickler syndrome type 2 2024-12-05 no assertion criteria provided clinical testing

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