ClinVar Miner

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

gnomAD frequency: 0.00009  dbSNP: rs201898154
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000310076 SCV000365994 uncertain significance Wolman disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000310076 SCV000365995 uncertain significance Wolman disease 2016-06-14 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000733561 SCV000861640 likely benign not specified 2018-06-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp 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
PreventionGenetics, part of Exact Sciences RCV004544509 SCV004771396 likely benign LIPA-related disorder 2021-06-07 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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