ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.3879G>A (p.Glu1293=)

gnomAD frequency: 0.00021  dbSNP: rs759175453
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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 RCV000971183 SCV001118809 likely benign not provided 2023-11-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489411 SCV002801177 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 2022-04-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003936112 SCV004756091 likely benign LRP5-related disorder 2019-06-03 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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