ClinVar Miner

Submissions for variant NM_002332.3(LRP1):c.8262C>T (p.Asp2754=)

gnomAD frequency: 0.00299  dbSNP: rs35967775
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000888916 SCV001032572 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000888916 SCV004133530 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing LRP1: BP4, BP7, BS2

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