ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.504G>T (p.Val168=)

dbSNP: rs2133433160
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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 RCV001437471 SCV001640325 likely benign Wolman disease 2023-08-16 criteria provided, single submitter clinical testing

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