ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.1066T>C (p.Leu356=)

dbSNP: rs1281069681
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001442244 SCV001645191 likely benign Wolman disease 2022-08-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272684 SCV001454923 uncertain significance Lysosomal acid lipase deficiency 2020-04-11 no assertion criteria provided clinical testing

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