ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.252G>T (p.Leu84=)

dbSNP: rs2133436797
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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 RCV001506913 SCV001711851 likely benign Wolman disease 2022-07-21 criteria provided, single submitter clinical testing

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