ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.579G>A (p.Arg193=)

gnomAD frequency: 0.00002  dbSNP: rs777978533
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001430068 SCV001632792 likely benign Wolman disease 2024-01-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826242 SCV002091399 likely benign Lysosomal acid lipase deficiency 2021-09-17 no assertion criteria provided clinical testing

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