ClinVar Miner

Submissions for variant NM_002585.4(PBX1):c.320G>C (p.Arg107Pro)

dbSNP: rs2102302170
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pediatric Genetics Clinic, Sheba Medical Center RCV001788497 SCV001712208 likely pathogenic Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay 2021-05-13 no assertion criteria provided clinical testing

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