ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.599T>C (p.Leu200Pro)

gnomAD frequency: 0.00001  dbSNP: rs121965086
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000000096 SCV000793037 likely pathogenic Lysosomal acid lipase deficiency 2017-08-08 criteria provided, single submitter clinical testing
Invitae RCV000000095 SCV000931711 pathogenic Wolman disease 2021-08-13 criteria provided, single submitter clinical testing
OMIM RCV000000095 SCV000020238 pathogenic Wolman disease 1995-01-01 no assertion criteria provided literature only
OMIM RCV000000096 SCV000020239 pathogenic Lysosomal acid lipase deficiency 1995-01-01 no assertion criteria provided literature only
Natera, Inc. RCV000000096 SCV002091377 pathogenic Lysosomal acid lipase deficiency 2020-07-07 no assertion criteria provided clinical testing

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