ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.4278T>C (p.Tyr1426=)

gnomAD frequency: 0.00250  dbSNP: rs142328132
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176061 SCV000227654 likely benign not specified 2014-06-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000176061 SCV000308847 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000906012 SCV001050628 benign not provided 2025-01-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002478573 SCV002804188 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 2022-04-11 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000906012 SCV004563007 likely benign not provided 2023-03-16 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000906012 SCV005217219 likely benign not provided criteria provided, single submitter not provided

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