ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.5535C>A (p.Ile1845=)

gnomAD frequency: 0.00003  dbSNP: rs772030872
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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 RCV002093738 SCV002381488 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498327 SCV002810861 likely benign Donnai-Barrow syndrome 2021-12-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003958641 SCV004769825 likely benign LRP2-related disorder 2019-07-15 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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