ClinVar Miner

Submissions for variant NM_001032382.2(PQBP1):c.376_377del (p.Arg126fs)

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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 RCV004515777 SCV005016511 pathogenic Renpenning syndrome 2023-12-06 criteria provided, single submitter clinical testing

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