ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.1827A>G (p.Leu609=)

gnomAD frequency: 0.00001  dbSNP: rs186137585
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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 RCV002210292 SCV002367764 likely benign not provided 2023-11-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002479882 SCV002795571 likely benign Donnai-Barrow syndrome 2021-12-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003958585 SCV004781448 likely benign LRP2-related disorder 2019-10-25 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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