ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.9891T>C (p.Ser3297=)

gnomAD frequency: 0.00001  dbSNP: rs1486598660
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000924658 SCV001070176 likely benign not provided 2023-11-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502815 SCV002812550 likely benign Donnai-Barrow syndrome 2022-03-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000924658 SCV005092163 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing LRP2: BP4, BP7

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