ClinVar Miner

Submissions for variant NM_001611.5(ACP5):c.602T>C (p.Leu201Pro)

dbSNP: rs387906672
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV000022711 SCV001934480 uncertain significance Spondyloenchondrodysplasia with immune dysregulation 2021-03-12 criteria provided, single submitter clinical testing This variant was identified as homozygous.
OMIM RCV000022711 SCV000044000 pathogenic Spondyloenchondrodysplasia with immune dysregulation 2011-02-01 no assertion criteria provided literature only

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