ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.1923C>T (p.Ile641=)

gnomAD frequency: 0.00002  dbSNP: rs17848264
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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 RCV001431729 SCV001634488 likely benign not provided 2025-01-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495595 SCV002797331 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 2022-04-27 criteria provided, single submitter clinical testing

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