ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.4272C>T (p.His1424=)

gnomAD frequency: 0.00006  dbSNP: rs145226802
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596327 SCV000704494 uncertain significance not provided 2016-12-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000596327 SCV001027960 likely benign not provided 2024-01-24 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004586817 SCV005076553 benign not specified 2024-04-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003962682 SCV004779513 likely benign LRP5-related disorder 2021-01-22 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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