ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.8409A>G (p.Val2803=)

gnomAD frequency: 0.00016  dbSNP: rs201263376
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 RCV001495759 SCV001700448 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506572 SCV002810162 likely benign Donnai-Barrow syndrome 2021-10-22 criteria provided, single submitter clinical testing

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