ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.3990G>A (p.Ala1330=)

gnomAD frequency: 0.00108  dbSNP: rs147637431
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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) RCV000724886 SCV000226766 uncertain significance not provided 2017-08-08 criteria provided, single submitter clinical testing
GeneDx RCV000724886 SCV000722898 likely benign not provided 2021-05-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000724886 SCV001059312 benign not provided 2024-01-15 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000724886 SCV001921301 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000724886 SCV001969739 likely benign not provided no assertion criteria provided clinical testing

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