ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.429-8G>T

gnomAD frequency: 0.00013  dbSNP: rs112248349
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002235716 SCV001083760 likely benign Wolman disease 2024-01-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004543511 SCV004762186 likely benign LIPA-related disorder 2021-07-26 criteria provided, single submitter 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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