ClinVar Miner

Submissions for variant NM_002585.4(PBX1):c.265+2_265+5del

dbSNP: rs773334722
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001093018 SCV001249793 likely pathogenic not provided 2019-10-01 criteria provided, single submitter clinical testing
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine RCV001264740 SCV001442971 pathogenic Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay 2020-04-03 no assertion criteria provided clinical testing

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