ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.1042+19C>T

gnomAD frequency: 0.00088  dbSNP: rs183348926
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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 RCV002178460 SCV002474597 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500380 SCV002813161 likely benign Donnai-Barrow syndrome 2021-08-03 criteria provided, single submitter clinical testing

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