ClinVar Miner

Submissions for variant NM_002334.4(LRP4):c.1310-7T>A

gnomAD frequency: 0.00001  dbSNP: rs1555174059
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000551074 SCV000644091 likely benign Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 2025-01-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000551074 SCV002813578 likely benign Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 2021-12-15 criteria provided, single submitter clinical testing

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