ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.4045+20T>C

gnomAD frequency: 0.00010  dbSNP: rs202173572
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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 RCV001413404 SCV001615516 likely benign not provided 2024-01-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002504689 SCV002806579 likely benign Donnai-Barrow syndrome 2021-08-30 criteria provided, single submitter clinical testing

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