ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.6281-7C>A

gnomAD frequency: 0.00003  dbSNP: rs200673871
Minimum review status: Collection method:
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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 RCV002091261 SCV002388445 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486862 SCV002798067 likely benign Donnai-Barrow syndrome 2022-03-03 criteria provided, single submitter clinical testing

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