ClinVar Miner

Submissions for variant NM_005357.4(LIPE):c.2166G>A (p.Ala722=)

gnomAD frequency: 0.00016  dbSNP: rs371435924
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001818065 SCV002065963 uncertain significance not specified 2018-02-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003941168 SCV004755278 likely benign LIPE-related disorder 2020-01-02 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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