ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.160G>T (p.Glu54Ter)

dbSNP: rs1843015393
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV001263957 SCV001442055 likely pathogenic Lysosomal acid lipase deficiency 2019-04-28 criteria provided, single submitter clinical testing

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