ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.80-13T>C

gnomAD frequency: 0.00029  dbSNP: rs201879092
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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 RCV002142508 SCV002442202 likely benign not provided 2024-01-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002508090 SCV002808153 likely benign Donnai-Barrow syndrome 2022-01-07 criteria provided, single submitter clinical testing

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