ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.396C>G (p.Leu132=) (rs201603238)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000598286 SCV000702239 uncertain significance not provided 2018-08-27 criteria provided, single submitter clinical testing
Invitae RCV001507214 SCV001052054 benign Wolman disease 2020-12-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001083196 SCV001456944 likely benign Lysosomal acid lipase deficiency 2020-04-11 no assertion criteria provided clinical testing

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