ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.13519-18T>C

gnomAD frequency: 0.00008  dbSNP: rs1031924195
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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 RCV002216306 SCV002368451 likely benign not provided 2024-01-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494109 SCV002797963 likely benign Donnai-Barrow syndrome 2021-09-14 criteria provided, single submitter clinical testing

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