ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.7926T>G (p.Thr2642=)

gnomAD frequency: 0.00063  dbSNP: rs138903794
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002195847 SCV002486912 likely benign not provided 2024-01-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500419 SCV002807092 likely benign Donnai-Barrow syndrome 2021-07-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003933671 SCV004747668 likely benign LRP2-related disorder 2024-01-02 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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