ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.112-9T>C

gnomAD frequency: 0.00046  dbSNP: rs200186130
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000675916 SCV000344143 uncertain significance not provided 2018-01-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001450070 SCV001030530 likely benign Wolman disease 2024-10-12 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675916 SCV000801643 uncertain significance not provided 2017-05-16 no assertion criteria provided clinical testing
Natera, Inc. RCV001083223 SCV001456945 uncertain significance Lysosomal acid lipase deficiency 2020-04-11 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004543131 SCV004759372 likely benign LIPA-related disorder 2021-10-04 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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