ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.1801+725G>A

gnomAD frequency: 0.00128  dbSNP: rs576510976
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics, Academic Medical Center RCV001699687 SCV001922352 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727946 SCV001976033 likely benign not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003956328 SCV004782911 benign LRP5-related disorder 2019-09-03 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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