ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.3018C>T (p.Asp1006=)

gnomAD frequency: 0.00004  dbSNP: rs146792434
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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 RCV001453977 SCV001657687 likely benign not provided 2023-12-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495644 SCV002799429 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 2022-05-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001453977 SCV004810445 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing LRP5: BP4, BP7

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