ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.705C>G (p.Pro235=)

dbSNP: rs1203005431
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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 RCV001413084 SCV001615189 likely benign Wolman disease 2022-08-13 criteria provided, single submitter clinical testing

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