ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.256C>T (p.His86Tyr) (rs749180806)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671520 SCV000796504 uncertain significance Lysosomal acid lipase deficiency 2017-12-27 criteria provided, single submitter clinical testing
Alexion Pharmaceuticals, Inc RCV000671520 SCV000999868 likely pathogenic Lysosomal acid lipase deficiency 2019-06-01 criteria provided, single submitter research

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