ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.1071G>A (p.Leu357=)

dbSNP: rs1589548180
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001442724 SCV001645677 likely benign Wolman disease 2018-12-10 criteria provided, single submitter clinical testing

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