ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.1077G>A (p.Thr359=)

gnomAD frequency: 0.00006  dbSNP: rs200179967
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000912046 SCV001057131 benign not provided 2025-01-06 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279628 SCV002564858 likely benign Osteogenesis imperfecta 2020-10-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502742 SCV002806085 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 2021-10-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003913027 SCV004735466 likely benign LRP5-related disorder 2019-03-01 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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