ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.1392C>T (p.Ile464=)

dbSNP: rs569443429
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000403329 SCV000337190 benign not specified 2015-11-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000912047 SCV001057132 benign not provided 2025-01-30 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002278287 SCV002564864 likely benign Osteogenesis imperfecta 2020-11-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494841 SCV002811846 likely benign Bone mineral density quantitative trait locus 1; Exudative vitreoretinopathy 4; Exudative vitreoretinopathy 1; Worth disease; Autosomal dominant osteopetrosis 1; Osteoporosis with pseudoglioma; Osteoporosis; Polycystic liver disease 4 with or without kidney cysts 2021-07-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004742358 SCV005354387 benign LRP5-related disorder 2024-06-07 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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