ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.4691+16A>T

gnomAD frequency: 0.00012  dbSNP: rs201303681
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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 RCV002140798 SCV002469910 likely benign not provided 2024-01-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505812 SCV002795801 likely benign Donnai-Barrow syndrome 2022-01-11 criteria provided, single submitter clinical testing

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