ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.6040+9T>C

gnomAD frequency: 0.00015  dbSNP: rs185280219
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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 RCV000880211 SCV001023291 likely benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501373 SCV002806730 likely benign Donnai-Barrow syndrome 2021-12-15 criteria provided, single submitter clinical testing

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