ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.975G>A (p.Pro325=)

gnomAD frequency: 0.00012  dbSNP: rs368492082
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002153969 SCV002462430 likely benign not provided 2024-01-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500323 SCV002806052 likely benign Donnai-Barrow syndrome 2021-10-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002153969 SCV005256593 likely benign not provided criteria provided, single submitter not provided

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