ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.3039C>T (p.Cys1013=)

gnomAD frequency: 0.00001  dbSNP: rs200245838
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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 RCV001918226 SCV002181880 likely benign not provided 2023-12-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002484425 SCV002788998 uncertain significance Donnai-Barrow syndrome 2022-04-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004752098 SCV005350028 likely benign LRP2-related disorder 2024-05-06 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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