ClinVar Miner

Submissions for variant NM_001174147.2(LMX1B):c.741+1G>A

dbSNP: rs1427331961
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV000007423 SCV002556867 pathogenic Nail-patella syndrome 2020-12-31 criteria provided, single submitter clinical testing
OMIM RCV000007423 SCV000027623 pathogenic Nail-patella syndrome 1998-12-01 no assertion criteria provided literature only

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