ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.1180_1184del (p.Leu394fs)

dbSNP: rs2133411275
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003487003 SCV002017145 pathogenic not provided 2023-11-05 criteria provided, single submitter clinical testing
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV001783600 SCV002053748 pathogenic Lysosomal acid lipase deficiency criteria provided, single submitter clinical testing
Suma Genomics RCV003331202 SCV004037482 likely pathogenic Wolman disease criteria provided, single submitter clinical testing

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