ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.249C>T (p.Ser83=)

gnomAD frequency: 0.00004  dbSNP: rs375802434
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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 RCV001948418 SCV002205288 likely benign not provided 2024-04-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005002688 SCV002804028 likely benign Bone mineral density quantitative trait locus 1; Exudative vitreoretinopathy 4; Worth disease; Autosomal dominant osteopetrosis 1; Osteoporosis with pseudoglioma; Polycystic liver disease 4 with or without kidney cysts 2024-05-28 criteria provided, single submitter clinical testing

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