ClinVar Miner

Submissions for variant NM_000237.3(LPL):c.59C>T (p.Ala20Val)

dbSNP: rs572477224
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000930734 SCV001076390 likely benign not provided 2025-01-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272625 SCV001454746 uncertain significance Hyperlipoproteinemia, type I 2020-01-17 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003978088 SCV004788727 likely benign LPL-related disorder 2023-03-16 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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