ClinVar Miner

Submissions for variant NM_001174147.2(LMX1B):c.917_926del (p.Met306fs)

dbSNP: rs1588309269
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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 Munich, Klinikum Rechts Der Isar, TU München RCV000995799 SCV001150151 pathogenic Nail-patella syndrome 2018-06-26 criteria provided, single submitter clinical testing

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