ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.539-5C>A

dbSNP: rs2297472
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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) RCV000729734 SCV000857421 uncertain significance not provided 2017-10-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001485702 SCV001690148 likely benign Wolman disease 2024-01-09 criteria provided, single submitter clinical testing
Elsea Laboratory, Baylor College of Medicine RCV001250116 SCV001424299 likely benign Lysosomal acid lipase deficiency 2020-04-01 no assertion criteria provided clinical testing
Natera, Inc. RCV001250116 SCV001464773 uncertain significance Lysosomal acid lipase deficiency 2020-07-28 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004735775 SCV005348947 likely benign LIPA-related disorder 2024-08-16 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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