ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.4928G>A (p.Arg1643Gln)

gnomAD frequency: 0.00059  dbSNP: rs147688332
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000926192 SCV001071752 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003942872 SCV004758095 likely benign LRP2-related condition 2022-03-28 criteria provided, single submitter 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).
New York Genome Center RCV000926192 SCV001431040 uncertain significance not provided 2020-01-23 no assertion criteria provided clinical testing

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