ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.4518G>A (p.Thr1506=)

gnomAD frequency: 0.00001  dbSNP: rs764288902
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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 RCV002014377 SCV002298770 likely benign not provided 2023-08-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002479779 SCV002777645 uncertain significance 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 2021-10-06 criteria provided, single submitter clinical testing

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