ClinVar Miner

Submissions for variant NM_001174147.2(LMX1B):c.737G>C (p.Arg246Pro)

dbSNP: rs1191455921
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV002260131 SCV001162268 likely pathogenic Lipoid nephrosis no assertion criteria provided research
OMIM RCV001807651 SCV001449157 pathogenic Nail-patella-like renal disease 2020-12-07 no assertion criteria provided literature only

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