ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.1066T>C (p.Leu356=) (rs1281069681)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000977441 SCV001125358 likely benign not provided 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV001442244 SCV001645191 likely benign Wolman disease 2020-11-28 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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