ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.1605G>A (p.Thr535=)

gnomAD frequency: 0.00021  dbSNP: rs141896162
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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 RCV000921733 SCV001067145 likely benign not provided 2025-01-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495540 SCV002800454 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 2021-11-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000921733 SCV005218777 likely benign not provided criteria provided, single submitter not provided

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