ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.12988+18T>C

gnomAD frequency: 0.00011  dbSNP: rs201970419
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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 RCV002156010 SCV002465558 likely benign not provided 2024-01-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494484 SCV002800559 likely benign Donnai-Barrow syndrome 2022-01-25 criteria provided, single submitter clinical testing

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