ClinVar Miner

Submissions for variant NM_001174147.2(LMX1B):c.793G>T (p.Val265Phe)

dbSNP: rs1588307477
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pediatric Nephrology Laboratory, The University of Tokyo Hospital RCV001027512 SCV001190012 pathogenic Nail-patella syndrome 2020-03-16 criteria provided, single submitter clinical testing

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