ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.1651T>C (p.Leu551=)

gnomAD frequency: 0.00001  dbSNP: rs1574212904
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000941070 SCV001086949 likely benign not provided 2023-10-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005021282 SCV005652255 uncertain significance Donnai-Barrow syndrome 2024-05-13 criteria provided, single submitter clinical testing

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