ClinVar Miner

Submissions for variant NM_001204961.1(PBX1):c.701G>A (p.Arg234Gln) (rs1553248112)

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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 RCV000677637 SCV000803767 likely pathogenic CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY 2018-01-04 criteria provided, single submitter clinical testing

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