ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.2193C>T (p.Asn731=)

gnomAD frequency: 0.00108  dbSNP: rs147388442
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173756 SCV000224904 benign not specified 2015-04-23 criteria provided, single submitter clinical testing
Invitae RCV000954642 SCV001101287 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000173756 SCV001476669 benign not specified 2019-10-29 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277339 SCV002564878 likely benign Osteogenesis imperfecta 2019-12-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500460 SCV002806585 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 2021-08-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000954642 SCV004137096 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing LRP5: BP4, BP7
Clinical Genetics, Academic Medical Center RCV000173756 SCV001978872 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000954642 SCV001980614 likely benign not provided no assertion criteria provided clinical testing

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