ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.819T>C (p.Asn273=)

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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 RCV002865968 SCV003219729 likely benign Wolman disease 2022-07-27 criteria provided, single submitter clinical testing

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