ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.4623G>A (p.Thr1541=)

gnomAD frequency: 0.00155  dbSNP: rs139974816
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000972295 SCV000723139 likely benign not provided 2020-07-13 criteria provided, single submitter clinical testing
Invitae RCV000972295 SCV001119999 benign not provided 2024-01-08 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279417 SCV002564918 likely benign Osteogenesis imperfecta 2021-02-19 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000972295 SCV004563581 likely benign not provided 2023-11-03 criteria provided, single submitter clinical testing

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