ClinVar Miner

Submissions for variant NM_002334.4(LRP4):c.2814+1G>A

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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 RCV003485993 SCV004232633 likely pathogenic Cenani-Lenz syndactyly syndrome criteria provided, single submitter clinical testing ACMG criteria PVS1, PM2, PP3, likely LOF allele, relevance for the hypodontia phenotype of the individual unclear

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