ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.3888C>T (p.Pro1296=)

gnomAD frequency: 0.00012  dbSNP: rs752439831
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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 RCV000910593 SCV001055468 likely benign not provided 2024-01-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502732 SCV002808234 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 2022-01-13 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000910593 SCV003799380 likely benign not provided 2022-03-22 criteria provided, single submitter clinical testing

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