ClinVar Miner

Submissions for variant NM_002334.4(LRP4):c.4613G>A (p.Arg1538Gln)

gnomAD frequency: 0.00010  dbSNP: rs140495790
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000354293 SCV000372158 uncertain significance Bone Mineral Density Variation 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000876033 SCV001018540 benign Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 2024-01-18 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001820901 SCV002066200 benign not specified 2017-09-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003391075 SCV004130069 benign not provided 2022-12-01 criteria provided, single submitter clinical testing LRP4: BS1, BS2
PreventionGenetics, part of Exact Sciences RCV004537714 SCV004743554 benign LRP4-related disorder 2022-07-05 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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