ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.4446G>C (p.Ser1482=)

dbSNP: rs142191419
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001512435 SCV001719859 benign not provided 2024-01-19 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002276751 SCV002564914 likely benign Osteogenesis imperfecta 2022-05-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001512435 SCV004137109 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing LRP5: BP4, BP7

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