ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.1134C>T (p.Ile378=)

gnomAD frequency: 0.00021  dbSNP: rs139130382
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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 RCV000981247 SCV001129215 likely benign not provided 2024-12-15 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001819686 SCV002065348 likely benign not specified 2021-06-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489446 SCV002803468 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 2021-12-14 criteria provided, single submitter clinical testing

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