ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.10413C>T (p.Thr3471=)

gnomAD frequency: 0.00008  dbSNP: rs781066641
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002075719 SCV002381921 likely benign not provided 2023-12-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498306 SCV002810051 likely benign Donnai-Barrow syndrome 2022-04-25 criteria provided, single submitter clinical testing

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