ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.660A>C (p.Pro220=)

dbSNP: rs2133429315
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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 RCV001465143 SCV001669126 likely benign Wolman disease 2019-12-15 criteria provided, single submitter clinical testing

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