ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.4000+11C>G

gnomAD frequency: 0.00039  dbSNP: rs367615138
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002156299 SCV002477002 likely benign not provided 2023-12-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500354 SCV002809509 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 2022-02-03 criteria provided, single submitter clinical testing

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