ClinVar Miner

Submissions for variant NM_001174147.2(LMX1B):c.259C>T (p.Gln87Ter)

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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, University of Goettingen RCV003228792 SCV003925565 pathogenic Nail-patella syndrome 2023-05-19 criteria provided, single submitter clinical testing

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