ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.1999G>A (p.Val667Met) (rs4988321)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000250939 SCV000308838 likely benign not specified criteria provided, single submitter clinical testing
Mendelics RCV000006654 SCV001138364 likely benign Osteoporosis with pseudoglioma 2019-05-28 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000086953 SCV001144464 benign not provided 2018-12-06 criteria provided, single submitter clinical testing
Invitae RCV000086953 SCV001731472 benign not provided 2020-12-04 criteria provided, single submitter clinical testing
OMIM RCV000006654 SCV000026837 pathogenic Osteoporosis with pseudoglioma 2001-11-16 no assertion criteria provided literature only
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000006654 SCV000052808 not provided Osteoporosis with pseudoglioma 2015-10-02 no assertion provided clinical testing
NEI Ophthalmic Genomics Laboratory,National Institutes of Health RCV000086953 SCV000119205 not provided not provided no assertion provided not provided

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