ClinVar Miner

Submissions for variant NM_001031679.3(MSRB3):c.293-2A>G

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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 RCV004018020 SCV004847181 likely pathogenic Autosomal recessive nonsyndromic hearing loss 74 2023-08-02 criteria provided, single submitter clinical testing

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