ClinVar Miner

Submissions for variant NM_002334.4(LRP4):c.387C>T (p.Cys129=)

gnomAD frequency: 0.00076  dbSNP: rs80333596
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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 RCV000875532 SCV001017974 benign Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 2023-12-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000875532 SCV002794656 likely benign Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 2021-10-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003392665 SCV004130078 likely benign not provided 2022-03-01 criteria provided, single submitter clinical testing LRP4: BP4, BP7

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