ClinVar Miner

Submissions for variant NM_002585.3(PBX1):c.818G>A (p.Cys273Tyr) (rs1558020021)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues RCV000735243 SCV000863452 likely pathogenic CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY 2018-08-14 criteria provided, single submitter research

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