ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.729G>T (p.Leu243=)

dbSNP: rs1422320148
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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 RCV002187936 SCV002354895 likely benign Wolman disease 2021-05-07 criteria provided, single submitter clinical testing

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