ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.8352G>C (p.Thr2784=)

gnomAD frequency: 0.00016  dbSNP: rs200194530
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000923391 SCV001068864 likely benign not provided 2023-11-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488000 SCV002800266 likely benign Donnai-Barrow syndrome 2021-07-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000923391 SCV004147256 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing LRP2: BP4, BP7

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