ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.10803C>T (p.Cys3601=)

gnomAD frequency: 0.00002  dbSNP: rs370876114
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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 RCV000917955 SCV001063249 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502787 SCV002808005 likely benign Donnai-Barrow syndrome 2021-11-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000917955 SCV004147244 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing LRP2: BP4, BP7

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