ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.813T>C (p.Asn271=)

dbSNP: rs1842729565
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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 RCV001483345 SCV001687734 likely benign Wolman disease 2022-07-19 criteria provided, single submitter clinical testing

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