ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.4302G>A (p.Met1434Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center RCV003325628 SCV004031431 uncertain significance Stickler syndrome type 2 2023-09-05 criteria provided, single submitter clinical testing

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