ClinVar Miner

Submissions for variant NM_001174147.2(LMX1B):c.543del (p.Asp182fs)

dbSNP: rs1114167362
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Cologne University RCV000490644 SCV000538197 pathogenic Nail-patella syndrome no assertion criteria provided clinical testing

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