ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.1179T>C (p.Asn393=)

dbSNP: rs1842600280
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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 RCV002007387 SCV002234441 likely benign Wolman disease 2021-10-14 criteria provided, single submitter clinical testing

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