ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.4755C>T (p.Asp1585=)

gnomAD frequency: 0.00009  dbSNP: rs141871628
Minimum review status: Collection method:
Minimum conflict level:
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 RCV002145732 SCV002451611 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002145732 SCV002544115 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing LRP2: BP4, BP7
Fulgent Genetics, Fulgent Genetics RCV002494450 SCV002800078 likely benign Donnai-Barrow syndrome 2021-12-12 criteria provided, single submitter clinical testing

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