ClinVar Miner

Submissions for variant NM_078480.3(PUF60):c.24+1G>C (rs1064795388)

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Total submissions: 2
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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 RCV000735797 SCV000965750 uncertain significance Verheij syndrome 2014-01-01 criteria provided, single submitter clinical testing
OMIM RCV000735797 SCV000863959 pathogenic Verheij syndrome 2018-12-21 no assertion criteria provided literature only

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