ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.4000+9C>T

gnomAD frequency: 0.00325  dbSNP: rs148685646
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030153 SCV000052809 uncertain Postmenopausal osteoporosis 2011-08-18 criteria provided, single submitter curation Converted during submission to Uncertain significance.
Eurofins NTD LLC (GA) RCV000175300 SCV000226767 likely benign not specified 2014-11-07 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000175300 SCV000308846 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000949971 SCV001096248 benign not provided 2021-12-17 criteria provided, single submitter clinical testing
GeneDx RCV000949971 SCV001940230 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000175300 SCV002066261 benign not specified 2021-06-28 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,The Hospital for Sick Children RCV002276590 SCV002564678 benign Increased bone mineral density 2021-05-13 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,The Hospital for Sick Children RCV002276589 SCV002564903 benign Osteogenesis imperfecta 2021-05-13 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000949971 SCV001809301 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000949971 SCV001919329 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000949971 SCV001969001 likely benign not provided no assertion criteria provided clinical testing

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