ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.4000+10T>A

gnomAD frequency: 0.02476  dbSNP: rs116068042
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175298 SCV000226765 benign not specified 2015-02-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000956972 SCV001103764 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV000956972 SCV001899962 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277354 SCV002564677 benign Increased bone mineral density 2021-01-04 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277353 SCV002564902 benign Osteogenesis imperfecta 2019-08-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000956972 SCV004563054 benign not provided 2023-11-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000956972 SCV005319256 benign not provided criteria provided, single submitter not provided

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