ClinVar Miner

Submissions for variant NM_002316.3(LMX1B):c.745C>T (p.Arg249Ter) (rs121909492)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000007425 SCV000027625 pathogenic Nail-patella syndrome 1998-12-01 no assertion criteria provided literature only
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare RCV000007425 SCV000746071 pathogenic Nail-patella syndrome 2017-09-18 no assertion criteria provided clinical testing

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