ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.1976-5T>A

gnomAD frequency: 0.00167  dbSNP: rs373234680
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000916210 SCV001061443 benign not provided 2024-01-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495520 SCV002797381 likely benign Donnai-Barrow syndrome 2021-07-12 criteria provided, single submitter clinical testing

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