ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.429-8G>A

dbSNP: rs112248349
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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 RCV001403448 SCV001605318 likely benign Wolman disease 2023-03-29 criteria provided, single submitter clinical testing

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