ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.539-6T>C (rs201898154)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000310076 SCV000365994 uncertain significance Wolman disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000310076 SCV000365995 uncertain significance Wolman disease 2016-06-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000733561 SCV000861640 likely benign not specified 2018-06-05 criteria provided, single submitter clinical testing
Invitae RCV000944060 SCV001090020 benign Lysosomal acid lipase deficiency 2019-12-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV000944060 SCV001453547 benign Lysosomal acid lipase deficiency 2020-09-16 no assertion criteria provided clinical testing

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