ClinVar Miner

Submissions for variant NM_005422.4(TECTA):c.568A>C (p.Thr190Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV004018045 SCV004847235 likely pathogenic Autosomal dominant nonsyndromic hearing loss 12 2023-04-12 criteria provided, single submitter clinical testing

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