ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.3501C>T (p.Val1167=)

gnomAD frequency: 0.00001  dbSNP: rs764906118
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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 RCV000927960 SCV001073561 likely benign not provided 2024-01-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502831 SCV002810030 likely benign Donnai-Barrow syndrome 2022-04-05 criteria provided, single submitter clinical testing

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