ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.1221G>A (p.Ala407=)

gnomAD frequency: 0.00106  dbSNP: rs150970251
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000919960 SCV001065317 benign not provided 2025-01-12 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279639 SCV002564862 likely benign Osteogenesis imperfecta 2019-06-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002479069 SCV002803749 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 2021-08-20 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000919960 SCV005319224 benign not provided criteria provided, single submitter not provided

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