ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.549A>T (p.Ala183=)

dbSNP: rs746094174
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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 RCV001402963 SCV001604823 likely benign Wolman disease 2019-04-20 criteria provided, single submitter clinical testing

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