ClinVar Miner

Submissions for variant NM_001031710.3(KLHL7):c.1291del (p.Gly430_Leu431insTer)

dbSNP: rs1554293083
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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 RCV000576886 SCV000678291 likely pathogenic Ulnar deviation of the wrist 2016-11-01 criteria provided, single submitter research

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