ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.2702G>A (p.Gly901Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003988754 SCV004804992 likely pathogenic Stickler syndrome type 2 2024-03-17 criteria provided, single submitter research

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