ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.2124G>A (p.Ser708=)

gnomAD frequency: 0.00230  dbSNP: rs140977837
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000263817 SCV000341083 uncertain significance not provided 2016-05-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000263817 SCV001055242 benign not provided 2024-01-19 criteria provided, single submitter clinical testing
GeneDx RCV000263817 SCV001766090 likely benign not provided 2020-12-21 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002278304 SCV002564877 likely benign Osteogenesis imperfecta 2021-08-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003909998 SCV004719101 benign LRP5-related disorder 2022-03-02 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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